Xerophthalmia/dry eyes
Xanthomas/lipomas
X-linked recessive inheritance
X-linked dominant inheritance
Wrist/carpal anomalies
Wormian bones
Woolly/frizzy hair
Wide space between 1st-2nd toes
Wide rib cage/thorax
White forelock/piebaldism
White cell disorders
Weight loss/loss of appetite/break in weight curve/general health alteration
Webbed neck/pterygium colli
Wasted (excluding lipodystrophy)/poorly muscled build/cachexy
Warts/papillomas
Vitreous anomalies/hyalitis/persistent vitreous vascularisation
Vitamin K/K1/K2 deficiency
Vitamin D deficiency
Vitamin B12 deficiency
Visual/auditory/tactile agnosia/propopagnosia/simultagnosia
Visual loss/blindness/amblyopia
Visceral angiomatosis (excluding skin)
Vesicorenal/vesicoureteral reflux
Vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
Vertebral segmentation anomaly/hemivertebrae
Ventricular septal defect/interventricular communication
Venous thrombosis/phlebitis/thrombophlebitis
Venous stenosis
Vascularitis/vasculitides/arteritis
Vascular malignancy/tumor
Vascular anomalies of skin/mucosae
Varices/varicous veins/venous insufficiency
Vaginal/vulvar neoplasm/tumor/carcinoma/cancer
Vaginal hydrocele/hematocele/pyocele/lymphocele/varicocele
Vagina anomalies/atresia/hydrometrocolpos/hymen imperforation
Uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
Uterine/uterus/Fallopian tubes anomalies
Uterine rupture
Urticaria
Urogenital sinus
Urogenital fistulae
Urinary/renal lithiasis/kidney stones/nephritic colic
Urethral anomalies/stenosis/posterior urethral valves/megalocystis
Ureterocele/cystic dilation/dilatation of the ureter/ureterovasical stenosis
Ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer
Ureteral stenosis/narrowing
Ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
Upslanted palpebral fissures/mongoloid slanting palpebral fissures
Upper limb transverse anomaly (excluding hand)
Upper limb segmental anomalies
Upper limb polydactyly/hexadactyly
Upper limb asymmetry/hemiatrophy/hemihypertrophy
Unusual body odour
Ungual/parungual fibromas (toenails)
Ungual/paraungual fibromas (fingernails)
Undescended/ectopic testes/cryptorchidia/unfixed testes
Umbilical hernia
Ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
Ulnar deviation of fingers
Twinning (type unknown)
Turricephaly/oxycephaly/acrocephaly
Truncal obesity
True hermaphrodism
Troubles of memory/amnesia/hypermnesia
Trigonocephaly
Trigeminal neuralgia
Trident hand/split hand/abnormal median ray
Tricuspid valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
tricuspid valve atresia/stenosis/narrowing
Triangular face
Tremor
Transposition of great vessels
Transient cerebral ischemia/stroke
Transient amaurosis/acute visual trouble
Tragus abnormal/absent
Tracheomalacia/tracheobronchomalacia
Tracheo-esophageal fistula/esophageal atresia/stenosis
Tracheal atresia/stenosis
Total/partial trisomy/duplication
Total/partial monosomy/deletion
Tooth shape anomaly
Tonsil anomaly/hypertrophy/adenoiditis
Tinnitus
Tight skin/lack of elasticity
Tics/stereotypias
Tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
Thyroiditis
Thyroid neoplasm/tumor/carcinoma/cancer
Thyroid anomalies
Thymus/thymic neoplasm/tumor/carcinoma/cancer/thymoma
Thymic hyperplasia
Thymic aplasia/hypoplasia
Thumb hypoplasia/aplasia/absence
Thumb duplication/distal bifid thumb phalangeal bone
Thumb anomalies (excluding hypoplasia)
Thrombocytopenia/thrombopenia
Thoracic/chest pain
Thirst
Thin/retracted lips
Thin/hypoplastic/hyperconvex fingernails
Thin/hypoplastic toenails
Thin/hypoplastic ala nasi
Thin skin
Thickened/hypertrophic/fibromatous gingivae
Thick/wide ear lobe
Thick/dowel fingers
Thick/bushy eyebrows
Thick skin/pachydermia/orange skin
Thick scalp/scalp dysplasia
Thick lips
Thick columella
Thalamic/hypothalamic defect
Tetralogy of Fallot/trilogy of Fallot
Testis anomalies
Testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
Testes inflammation/orchitis
Terminal/third phalangeal bone of fingers hypoplasia
Terminal/third phalangeal bone of fingers broadened/deviated
Terminal broadening/clubbing of toes
Tented upper lip
Tendon rupture/tendinitis/bursitis/tenosynovitis
Telecanthus/canthal dystopy
Telangiectasic erythema/poikiloderma
Telangiectasiae of the skin
Telangiectasiae of mucosae
Taurodontia
Tarsal anomaly/fusion/synostosis
Tapered fingers
Tall stature/gigantism/growth acceleration
Talipes-varus/metatarsal varus
Talipes-valgus
Tags on cheeks
T-cell deficiency/cellular immunity deficiency
Syringomelia
Synotia
Synostosis
Synophris/synophrys
Syndactyly of toes
Syndactyly of fingers/interdigital palm
Symphalangy of fingers
Supernumerary teeth/polyodontia
Supernumerary nipples/polythelia
Supernumerary kidney
Subcutaneous nodules/lipomas/tumefaction/swelling
Structural anomaly of the peritoneum
Structural anomalies of the respiratory system and diaphragm
Structural anomalies of the pancreas
Structural anomalies of the nervous system
Structural anomalies of the liver and the biliary tract
Structural anomalies of the kidney and the urinary tract
Structural anomalies of the genital system
Structural anomalies of the digestive tract
Structural anomalies of the cardio-circulatory system
Structural anomalies of middle ear/ossicles/tympanic cavity
Structural anomalies of inner ear/cochlea/vestible/semicircular canals
Structural and functional anomalies of the spleen
Striae
Straight spine
Strabismus/squint
Storage liver disease
Stomach/gastric anomaly
Stillbirth/neonatal death
Sternal/sternum anomalies
Sterility/hypofertility
Stenosis of aqueduc of Sylvius
Sprain/twisted joint
Spontaneous abortions
Splenomegaly
Spindle shaped fingers
Spina bifida occulta
Spina bifida
Sphincter dysfunction
Spermatocele/epididymal/funicular/spermatic/vaginal/albugineal cyst
Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
Somnolence/hypersomnia/parasomnia
Solitary median incisor
Soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
Small/triangular nares/nostrils
Small/hypoplastic/adherent/absent ear lobe
Small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
Small hand/acromicria
Small foot
Small face
Small bowel neoplasm/tumor/carcinoma/cancer
slow growth of the hair
Sloping forehead
Sleep and vigilance disorders
Skull/cranial anomalies
Skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
Skin tumors/lumps/epidermal cysts
Skin photosensitivity
Skin hypoplasia/aplasia/atrophy
Situs inversus visceralis/colon/intestine trasposition/heterotaxia
Sirenomelia/mermaid/lower limb fusion
Single umbilical artery
Single nare/abouphalia
Simian crease/transverse/unique palmar crease
Shoulder dislocation
Short/small nose
Short stature/dwarfism/nanism
Short rib cage/thorax
Short philtrum
Short palate
Short neck
Short limbs/micromelia/brachymelia
Short hand/brachydactyly
Short foot/brachydactyly of toes
Short columella/depressed nasal tip
Short bowel
Short big toe
Shawl scrotum
Sharp-shaped face
Shagreen patch
Severe combined immune deficiency syndrome/SCID
Severe allergic reaction/atopy
Septo-optic dysplasia
Sepsis severe/septicemia
Sensorineural deafness/hearing loss
Sensitive trouble/deficit
Seizures/epilepsy/absences/spasms/status epilepticus
Seborrhea/hyperseborrhea/seborrheic dermatitis
Scrotum abnormalities
Scoliosis
Sclerocornea
Schizencephaly
Scapula structural/position anomaly/congenital elevation/Sprengel anomaly
Scalp/skull defect
Scalp cyst/giant nevus
Sarcoma
Salivary gland neoplasm/tumor/carcinoma/cancer
Sacrum/sacral duplication
Sacroiliac joints anomalies
Sacrococcyx agenesis
Sacrococcygeal teratoma
Sacro-coccyx/sacrum anomaly
Sacral sinus/dimple
Round face
Round ear
Rough trabeculation of bone
Rippled skin
Rigid spine
Rib structure anomalies
Rib number anomalies
Rhizomelic micromelia
Retrobulbar optic neuritis
Retinoschisis/retinal/chorioretinal coloboma
Retinopathy
Retinoblastoma
Retinitis pigmentosa/retinal pigmentary changes
Retinal/chorioretinal dysplasia/dystrophy
Retinal vascular anomalies/retinal telangiectasia
Retinal hamartoma
Retinal detachment
Retinal albinism
Restricted joint mobility/joint stiffness/ankylosis
Respiratory-digestive intersection/aero-digestive cross-roads anomaly
Respiratory rhythm disorder
Respiratory distress/dyspnea/respiratory failure/lung volume reduction
Respiratory chain /mitochondrial anomalies
Repeat respiratory infections
Renovascular hypertension
Renal/kidney calcifications/nephrocalcinosis
Renal/kidney anomalies
Renal tubular defect/tubulopathy
Renal glomerular defect/glomerulopathy
Renal failure
Renal disease/nephropathy
Renal cyst (single)
Red cell structure/shape anomalies
Red cell disorders
Recurrent urinary infections
Rectum/rectal neoplasm/tumor/carcinoma/cancer
Radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
Radioulnar synostosis
Radiologic lung abnormalities/changes
Radial club hand
Rachidian/spine canal stenosis
Pyramidal syndrome
Pustula/pustulosis
Purpura/petichiae
Pupillary anomalies/mydriasis/myosis/tonic pupil
Punctated vertebrae
Punctate nails
Punctate epiphyses/epiphysis
Pulmonary veins anomalies
Pulmonary valve atresia/stenosis/narrowing
Pulmonary valve anomaly/incompetence/insufficiency/regurgitation
Pulmonary thromboembolism
Pulmonary hypertension
Pulmonary edema
Pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
Puffy eyelids
Ptosis
Pterygion
Psychosis/schizophrenia/maniac disorder
Psychic/psychomotor regression/dementia/intellectual decline
Psychic/behavioural troubles
Psoriasis
Pseudobulbar signs/spasmodic laugh and cry
Pruritus/itching
Proximally set thumb
Protruding lips
Proteinuria
Prostatic inflammation/prostatitis
Prostate/prostatic neoplasm/tumor/carcinoma/cancer
Proptosis/exophthalmos
Prominent/bat ears
Prominent supraorbital ridge
Prominent premaxillary region/midface
Prominent occiput/occipital bossing
Prominent metopic suture
Prognathism/prognathia
Primary amenorrhea
Prematurity
Premature lost of decidious teeth
Premature greying of hair
Premature eruption of teeth/natal teeth
Premature ageing
Precocious puberty
Precocious menopause/secondary amenorrhea
Preaxial polydactyly of toes/big toe duplication
Preaxial polydactyly (hand)
Preauricular/branchial tags/appendages
Postaxial polydactyly of toes/fifth supernumerary toe
Postaxial polydactyly (hand)
Positive Nikolski's sign/achantolysis
Portal hypertension
Porphyrins metabolism anomalies/porphyria
Porencephaly
Popliteal web
Poorly ossified skull/calvarium
Polyposis of the bowel/colon/intestine
Polynuclear cells/neutrophils anomalies/neutropenia
Polyhydramnios
Polygenic/multifactorial inheritance
Polydactyly of toes
Polycystic liver disease/hepatic cysts
Polycystic kidneys
Pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
Pointed helix/Elfin ear
Pointed chin
Platyspondyly
Platelets shape anomalies
Platelets function anomaly
Platelet disorders/thrombopathies
Plagiocephaly
Pituitary/hypophyseal neoplasm/tumor/carcinoma/cancer
Pinnae chondritis
Pili torti
Pigmented naevi/naevus pigmentosus/lentigo
Photophobia
Phosphocalcic metabolism anomalies
Phocomelia
Phimosis/preputial adhesions/paraphimosis
Philtrum flat/large/featureless/absent cupidon bows
Philtrum deeply grooved
Pheochromocytoma/paraganglioma
Pharyngitis
Pes talus
Pes cavus
Persistance of the cloaca
Peritonitis/peritoneal abscess
Peritoneal diseases
Peripheral neuropathy
Peripheral arteriovenous fistula
Pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
Periarticular tissue anomaly/extraarticular calcifications
Penis duplication/diphallia/penoscrotal transposition
Penis anomalies
Penile induration
Pelvis anomaly/Narrow/broad iliac wings/pubis abnormality
Pedunculated skin lesions
Pectus excavatum
Pectus carinatum
Patent ductus arteriosus
Patella dislocation
Patella absent/abnormal (excluding luxation)
Paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
Parathyroids anomalies
Parathyroid neoplasm/tumor/carcinoma/cancer
Pancreatitis
Pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
Pancreatic fibrosis
Pancreatic failure/exocrine pancreas disease
Palpebral edema/periorbital edema
Palmoplantar pustulosis
Palmoplantar hyperkeratosis/keratoderma
Pallor
Palate exostoses/torus palatinus
Palate anomalies
Ovary/ovarian teratoma/germinoma
Ovary/Fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
Osteosclerosis/osteopetrosis/bone condensation
Osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
Osteonecrosis/bone infarction
Osteomyelitis/osteitis/periostitis/spondylodisciitis
Osteolysis/osteoclasia/bone destruction/erosions
Osteochondritis/ostechondrosis
Osteoarthritis
Oropharyngeal neoplasm/tumor/carcinoma/cancer
Organic acid metabolism anomalies
Oral synechiae/abnormal frenulae
Oral mucosa disease/cheilitis
Oral cavity/tongue neoplasm/tumor/carcinoma/cancer
Optic nerve anomaly/optic atrophy/anomaly of the papilla
Ophthalmoplegia/ophthalmoparesis/oculomotor palsy
Onyxis/paronyxis/ungual inflammation
Onycholysis
Omphalocele/exomphalos
Oligosacchariduria
Oligoelements metabolism anomalies
Oligodactyly/ectrodactyly of toes
Oligodactyly/ectrodactyly of fingers
Oligoamnios
Odontoid hypoplasia
Oculomotor apraxia/dyspraxia
Obsessive-compulsive disorder
Obnubilation/coma/lethargia/desorientation
Nystagmus
Nose/nasal sinus neoplasm/tumor/carcinoma/cancer
Normocytic anemia
Night blindness/hemeralopia
Neuroendocrine tumor/apudoma/carcinoid
Neuroblastoma
Neuritis/polyneuritis/multineuritis
Neural tube defect
Nerve conduction abnormality
Nephrotic syndrome
Nephrosclerosis
Nephroblastoma/Wilms tumor
Neoplasms/tumors
Negative Nikolski's sign
Nausea/vomiting/regurgitation/merycism/hyperemesis
Nasal/sinus obstruction/apertura pyriformis hypoplasia/stenosis
Nasal septum deviation
Nasal polyposis
Nasal congestion/sinusitis/rhinitis/rhinorrhea
Nasal chondritis/nose chondritis
Nasal atrophy/hypoplasia/arhinia/rudimentary nose
Narrowed/gracile diaphysis/diaphyses/long bones/dolichostenomelia
Narrow/sloping shoulders
Narrow rib cage/thorax
Narrow nasal root
Narrow nasal bridge
Narrow forehead
Narrow face
Nails anomalies
Myotonia
Myositis
Myopia
Myopathy
Myoclonus/fasciculations
Myocardium anomalies/myocarditis
Myeloproliferative syndrome/chronic leukemia
Myelomeningocele
Myelodysplastic syndrome
Myasthenia
Myalgia/muscular pain
Mutiple fractures/bone fragility
Musculo-tendinous retractions
Muscular sclerosis
Muscular edema
Muscle weakness/flaccidity
Muscle ossification
Muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
Muscle hypertrophy
Muscle anomalies
Multiple myeloma
Multiple caries
Multicystic kidney/renal dysplasia
Mucous stools/acholic stools
Mucosal/cutaneous hemorrhage
Mucopolysacchariduria
Movement disorder
Mouth held open
Mouth dryness/xerostomia
Motor deficit/trouble
Monozygotic twinning
Monocytes/macrophages anomalies
Monoclonal immunoglobulins/gammapathy/dysglobulinemia
Mongoloid spot
Mixed gonadal dysgenesis
Mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
Mitral valve atresia/stenosis/narrowing
Mild visual loss/impaired visual acuity
Midline facial cleft
Middle ear neoplasm/tumor/carcinoma/cancer
Midbrain/brainstem/pons/medulla anomalies
Mid-facial hypoplasia/short/small midface
Microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
Microstomia/little mouth
Micropenis/small penis/agenesis
Micrognathia/retrognathia/micrognathism/retrognathism
Microglossia/aglossia/hypoglossia/tongue hypoplasia
Microgastria
Microcytic anemia
Microcornea
Microcephaly
Microblepharon/ablepharon/ablephara/eyelid absence
Metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
Metatarsus adductus
Metaphyseal anomaly
Metacarpal anomalies/Archibald's sign
Metabolic decompensation
Metabolic anomalies
Mesomelic micromelia
Mesenterium anomaly/common mesentery/mesenteric adhesion
Mesenteric/intestinal infarction
Meningocele
Meningitis/meningeal syndrome
Meningioma
Melanoma
Megaureter/hydronephrosis/pyeloureteral junction syndrome
Megalogastria
Megalocornea
Megaloblastic anemia
Megalencephaly
Megaesophagus/cardiospasm/congenital dilation of the esophagus/achalasia
Megacalicosis
Medulloblastoma
Mediastinal/hilar adenopathies
Mediastinal anomalies
Median ray abnormal/split foot
Median cleft lip
Meckel diverticulum
Maternal hypertension/eclampsia/preeclampsia/gravidic toxemia
Maternal diabetes
Mastocytosis
Marfanoid morphotype
Malimplantation of toes
Malignant hyperthermia
Male pseudohermaphrodism/lack of virilisation
Male internal genitalia anomaly/deferent ducts agenesis/ectopy/duplication
Malabsorption/chronic diarrhea/steatorrhea
Madelung's deformity
Macules
Macular pigmentary anomaly/cherry-red spot
Macular dystrophy/absence/hypoplasia of the macula
Macular coloboma
Macrostomia/big mouth
Macropenis/megapenis/large penis
Macroorchidism/macrotestes
Macroglossia/tongue protrusion/proeminent/hypertrophic
Macrodactyly/fingers hypertrophy/megalodactyly (hand)
Macrocytic anemia
Macrocephaly/macrocrania/megalocephaly/megacephaly
Lymphopenia
Lymphoma
Lymphocytes anomalies
Lymphedema
Lymphangioma/lymphatic malformations
Lymphadenopathy/polyadenopathies
Lung/pulmonary/alveolar hemorrhage/hematoma
Lung/pulmonary infiltrates
Lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
Lung fibrosis
Lower limb segmental anomalies
Lower limb asymmetry/hemiatrophy/hemihypertrophy
Low set ears/posteriorly rotated ears
Low hair line-front
Low hair line (back)
Lordosis
Loose skin/skin relaxation/excess skin/creases
Long/thick/curved lashes/trichomegaly/polytrichia
Long/prehensile big toe
Long/large/bulbous nose
Long/large ear
Long rib cage/thorax
Long philtrum
Long midface
Long limbs/dolichostenomelia
Long hand/arachnodactyly
Long foot/arachnodactyly of toes
Long face
Liver/hepatic steatosis
Liver/hepatic abscess
Lisch nodules/iris hamartomas
Lipoatrophy
Lipidosis/sulfatidosis
Lipid metabolism anomalies
Lip pits/fistulae
Lip hyperpigmentation
Limited opening of the mouth
Limb duplication/dimelia/ulnar/fibular dimelia/diplopodia
Lichen
Leukopenia/hypoleukocytosis
Lens dislocation/luxation/subluxation/ectopia lentis
Lateral thinning of eyebrows
Lateral cleft lip/gingival cleft/paramedian nasal cleft
Late puberty/hypogonadism/hypogenitalism
Larynx/laryngeal/epiglottic/subglottic cysts
Larynx/laryngeal stenosis/atresia
Larynx/laryngeal palsy
Larynx/laryngeal agenesis
Laryngomalacia
Laryngeal neoplasm/tumor/carcinoma/cancer
Large hand
Large fontanelle/delayed fontanelle closure
Large face
Lanugo
Lagophthalmia/partial palpebral occlusion
Lack/delayed ossification of spine/vertebrae
Kyphosis
Knee anomalies (excluding patella)
Kidney/renal neoplasm/tumor/carcinoma/cancer
Keratoconus/keratoglobus
Joint/articular deformation
Joint dislocation/subluxation
Irregular/patchy skin hypopigmentation
Irregular/in bands/reticular skin hyperpigmentation
Irregular length/shape of toes
Irregular length/shape of fingers
Iris melanosis/ocular melanosis
Iris albinism/ocular albinism
Iridocorneal/iridolenticular synechiae
Iridocorneal dysgenesis/iridogoniodysgenesis
Intrauterine growth retardation
Intrahepatic biliary tract atresia/obstruction
Intracranial/cerebral/meningeal hemorrhage
Intracranial/cerebral calcifications
Intestinal/gut/bowel malrotation
Intestinal/gut/bowel duplication
Intestinal/colonic anomaly
Intestinal/bowel fistulae
Intestinal transit disorder
Intestinal perforation
Intestinal obstruction/ileus
Intestinal atresia/stenosis/absence/agenesis/hypoplasia (excludes duodenum)
Intervertebral disk calcification
Intervertebral disk anomaly
Interstitial/restrictive pneumopathy/restrictive respiratory syndrome
Interstitial nephropathy
Internal hemorrhage
Intellectual deficit/mental/psychomotor retardation/learning disability
Insulin-independent/type 2 diabetes
Insulin-dependent/type 1 diabetes
Insulin resistance
Insterstitial/subtelomeric microdeletion/deletion
Insomnia
Insensitivity to pain
Inguinal/inguinoscrotal/crural hernia
Inflammatory intestinal disease
Increased nuchal translucency
Impotence/painful erection/priapism/erection troubles
Imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
Immunodeficiency/increased susceptibility to infections/recurrent infections
Immobile soft palate/soft palate anomaly
Ichthyosis/ichthyosiform dermatitis
Hypotrichosis/atrichia/atrichiasis/scalp hairlessness
Hypotonia
Hypothyroidy
Hypothermia
Hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
Hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies
Hypotension
Hypotelorism
Hypospadias/epispadias/bent penis
Hypoproteinemia
Hypoplastic/aplastic uvula
Hypoplastic/absent nipples
Hypoplastic scrotum/hemiscrotum/scrotal ridges
Hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
Hypoplastic mandibula/partial absence of the mandibula
Hypoplastic lungs/pulmonary hypoplasia/agenesis
Hypoplastic left heart/ventricle
Hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
Hypophosphatemia
Hypoparathyroidy
Hyponatremia
Hypokalemia
Hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
Hypoglycemia
Hypocalcemia
Hypoammonemia
Hyperuricemia
Hypertonia/spasticity/rigidity/stiffness
Hyperthyroidy
Hypertelorism
Hypersplenism
Hypersialorrhea
Hypersensibility of scalp/scalp tenderness
Hyperphosphtemia
Hyperperistalsis/hypoperistalsis
Hyperparathyroidy
Hyperostosis
Hypernatremia
Hypermetropia
Hyperlymphocytosis
Hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
Hyperleukocytosis/leukocytosis
Hyperkinesia/dyskinesia
Hyperkeratosis/ainhum/hyperkeratotic skin fissures
Hyperkalemia
Hyperinsulinism/hyperinsulinemia
Hyperhidrosis/increased sweating
Hypergammaglobulinemia
Hyperferritinemia/iron overload
Hyperextensible joints/articular hyperlaxity
Hyperesthesia/allodynia/hyperalgia
Hyperelastic skin/cutaneous hyperlaxity
Hypereflexia
Hypercalciuria
Hypercalcemia
Hyperammonemia
Hyperaldosteronism
Hyperacusia
Hyperactivity/attention deficit
Hydrops fetalis
Hydrocephaly
Hydrarthrosis/articular/joint effusion
Hydranencephaly
Humour troubles/anxiety/depression/apathy/euphoria/irritability
Humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
Humeroulnar joint anomaly
Humeroradial fusion
Hot flushes/sensation of cold
Horizontal folds on scrotum
Holoprosencephaly/arhinencephaly/unique lateral ventricle
Hirsutism/hypertrichosis/Increased body hair
Hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
High vaulted/narrow palate
High nasal bridge
High hair line (front)/widow peak
High forehead
High cheek bones
High arched eyebrows
Heterochromia/mixed colouring of iris
Herniae
Hepatomegaly/liver enlargement (excluding storage disease)
Hepatocellular liver disease/hepatic failure
Hepatoblastoma
Hepatitis/icterus/cholestasis
Hepatic/liver neoplasm/tumor/carcinoma/cancer
Hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
Hemoptysis
Hemolytic anemia
Hemoglobinosis/hemoglobinopathy
Hemobilia
Hemiplegia/diplegia/hemiparesia/limb palsy
Hemiballism/unilateral movement disorders
Hematuria/microhematuria
Hematomas
Hematologic/blood/lymphatic cancer
Helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
Helix thickened/sculpted
Heart/cardiac tumor
Heart/cardiac failure
Hearing loss/hypoacusia/deafness
Head and neck neoplasm/tumor/carcinoma/cancer
Hand agenesis/absence
Hamartoma/tumefaction of the tongue/gingivae/oral mucosa
Hallux valgus
Hairy patch
Hair and scalp anomalies
Gynecomastia/breast/mammary gland enlargement/hyperplasia
Ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
Grooved/dimple chin
Goiter
Glossoptosis
Glossitis
Global upper and lower limbs anomalies
Glial tumor/glioblastoma
Glaucoma
Gingivorrhagia/gingival bleeding
Gingivitis
Genu varum
Genu valgum
Genu recurvatum
Genital prolapse
Generalized obesity
Gastroschisis
Gastrointestinal stromal tumor
Gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
Gastric/pyloric stenosis
Gastric volvulus
Gangrena/necrosis
Gallbladder/common bile duct anomalies
Galactorrhea
Furuncle/cutaneous abscess/hidrosadenitis suppurativa
Funicular/testicular torsion/absent gubernaculum testis
Functional colopathy/irritable bowel syndrome
Functional anomalies of the respiratory system and diaphragm
Functional anomalies of the nervous system
Functional anomalies of the liver and the biliary tract
Functional anomalies of the kidney and the urinary tract
Functional anomalies of the genital system
Functional anomalies of the digestive system
Functional anomalies of the cardio-circulatory system
Frontal sinus agenesis/anomaly
Frontal bossing/prominent forehead
Freezing lesions
Fragility of the eye globe
Fragile chromosome X site
Fragile chromosomal site (other than Xq28)
Foot anomalies
Foot absent/apodia/adactyly/acheiropodia
Follicular/vermiculata atrophoderma
Follicular/erythematous/edematous papules/milium
Follicular/conjunctival hamartomas
Folded helix
Flitting flies/myiodesopsia/myodesopsia
Flexion deformity of toes (excluding big toe)/hammer toe/camptodactyly of toes
Flattened nose
Flat supraorbital ridge
Flat palm
Flat foot
Flat face
Flat cornea
Flat cheek bones/malar hypoplasia
Flared/thick ala nasi
Flared eyebrows
Flared chest/bell-shaped thorax/shield chest
Fissured/scrotal tongue
Fingerlike/triphalangeal thumb
Fine/elfin-like face
Fine hair
Fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly
Fibromatosis/bone fibroma
Fever/chilling
Fetal immobility/abnormal fetal movements
Ferropenic anemia
Femur anomaly/absence/agenesis/hypoplasia/bifurcation
Female pseudohermaphrodism/virilisation/clitoridomegaly
Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
Fasciitis
Failure to thrive/difficulties for feeding in infancy/growth delay
Facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
Facial palsy
Facial pain/cephalalgia/migraine
Facial dysmorphism
Facial cleft
Face/facial anomalies
Eyebrows anomalies
Eye neoplasm/tumor/carcinoma/cancer
Extrapyramidal syndrome
Extrahepatic biliary tract/gallbladder neoplasm/tumor/carcinoma/cancer
Extrahepatic biliary tract atresia/obstruction
External ear anomalies
External auditory canal atresia/stenosis/agenesis
Expressionless face/amimia
Exostoses
Execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
Excessive freckling
Excess nuchal skin without pterygium colli
Exaggerated cupid bows
Everted lower lip
Euryblepharon/wide palpebral fissures
Eunochoid morphotype
Estomach/gastric neoplasm/tumor/carcinoma/cancer
Esophageal varices
Esophageal neoplasm/tumor/carcinoma/cancer
Esophageal diverticulum/pouch
Erythema/erythematous lesions/erythroderma/polymorphous erythema
Erysipela
Epistaxis/nose bleeding
Epiphyseal vertebral anomaly
Epiphyseal anomaly
Epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
Epicanthic folds
Eosinophils anomalies/hypereosinophilia
Enthesis anomaly/inflammation/enthesitis/enthesopathy
Enlargment of jaw/large jaw
Enlarged diaphysis/diaphyses
Endocrine tumor
Endocardium anomalies/fibroelastosis/endocarditis
Endobrachyesophagus/Barrett esophagus
Encopresis/fecal incontinence
Enchondroses
Encephalocele/exencephaly
Encephalitis
Enanthema/aphtosa/aphta/leukoplakia
Enamel anomaly
Emphysema
Embryotoxon
Elocution disorders/dysarthria/dysphonia
Elbow dislocation
Elbow anomalies(excluding luxation)
EEG anomalies
Edema of the legs/lower limbs
Eczema
Ectropion/entropion/eyelid eversion
Ectromelia/absence of one or more limb segments
Ectopic/horseshoe/fused kidneys
Ectopic/agenesis/dysgenesis/hypoplastic thyroid
Ecchymoses
Early death/lethality
Early death in adulthood
Ear cartilage deficiency
Dystonia/torticollis/writer's cramp/blepharospasms
Dysplastic/thick/grooved toenails
Dysplastic/thick/grooved fingernails
Dyspareunia/coital pain/vaginal dryness
Dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
Dysautonomia/autonomous nervous sytem anomalies
Dural ectasia/
Duodenal atresia/stenosis/megaduodenum
Dry/squaly skin/exfoliation
Downturned mouth
Downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
Dolichocolon/megacolon/megadolichocolon/Hirschsprung's disease
Dolichocephaly/scaphocephaly
Dizziness
Dizygotic twinning
Distichiasis/double row of lashes
Distal phalangeal bones of toes hypoplasia/absence
Diplopia/double vision
Diplomyelia/amyelia/bifid spinal cord
Dilated cerebral ventricles without hydrocephaly
Digestive neoplasm/tumor/carcinoma/cancer
Diffuse/generalised skin hypopigmentation/cutaneous albinism
Diffuse/generalised skin hyperpigmentation/melanoderma
Diastematomyelia
Diaphyseal anomaly
Diaphragmatic palsy
Diaphragmatic hernia/defect/agenesis
Diabetes mellitus
Diabetes insipidus
Dextroposition of aorta
Dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus
Dermoid sinus/dimple/pit (excluding sacral)
Dermal/subcutaneous infiltration/induration
Depressed premaxillary region/midface
Depressed nasal bridge
Dentine anomaly
Dental staining anomaly/spotted teeth/erythrodontia
Dental malocclusion
Dental cysts/tumors
Dense/thickened skull/calvarium/cranial/facial hyperostosis
Dense scalp hair
Delirium/hallucination
Delayed dentition/eruption of teeth/lack of eruption of teeth
Delayed bone age
Dehydration/hydroelectrolytic loss
Defect/anomaly of lacrimal system
Deepset eyes/enophthalmos
Deep palmar creases
Decreased hair pigmentation/hypopigmentation of hair
Decreased body hair/axillar/pubic hairlessness
Death in infancy
Dandy-Walker anomaly
Cystocele
Cystic hygroma
Cystalgia with clear urine
Cyclopia
Cutis marmorata/marbled skin/livedo
Cutaneous/amniotic bands/webbing of joints
Cutaneous rash
Cutaneous neurofibromas/facial angiofibromas/Koenen tumors
Cutaneous inflammation
Cutaneous edema
Cushingoid morphotype
Cubitus valgus
Cryptophthalmia/ankyloblepharon/synblepharon
Cryoglobulinemia
Craniostenosis/craniosynostosis/sutural synostosis
Cranial nerves palsy
Cranial nerve anomalies
Cranial hypertension
Coxa profunda/acetabular protrusion
Cough
Cortico-adrenal hypoplasia/insufficiency
Cortico-adrenal hyperplasia/hypersecretion
Cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
Cortical anomaly/thick bone cortical layer
Cortical adrenal neoplasm/tumor/carcinoma/cancer
Corpus cavernosum sclerosis
Corpus callosum/septum pellucidum total/partial agenesis
Corneal ulceration/perforation
Corneal dystrophy
Corneal clouding/opacity/vascularisation
Contractures/cramps/trismus/tetania/claudication/opisthotonos
Constipation
Conjunctival tumor/epibulbar dermoid
Conjunctival telangiectasia
Conjunctival injection/chemosis/red eye
Conjoined twinning
Congenital torticolli
Congenital pancreatic cyst
Congenital hepatic fibrosis
Congenital cardiac anomaly/malformation/cardiopathy
Congenital alacrimia
Congenital absence/agenesis/aplasia/hypoplasia of the pancreas
Cone epiphyses/epiphysis
Conductive deafness/hearing loss
Complete/partial microdontia
Complete/partial macrodontia
Complete claw hand/camptodactyly of all fingers
Communicating hydrocephaly
Common arterial trunk/truncal valve
Colonic/intestinal/bowel diverticulosis/diverticulitis
Colonic/intestinal volvulus
Colonic atresia/stenosis/absence/agenesis/hypoplasia/microcolon
Colon neoplasm/tumor/carcinoma/cancer
Coloboma of the optic nerve
Coloboma of the lens
Coloboma of the eyelid
Coloboma of iris
Collapse/sudden death/cardiac arrest/cardiorespiratory arrest
Coarse/thick hair
Coarse face
Cloverleaf skull
Clotting/hemostasis disorders
Clitoris/labia majora/labia minora/female external genitalia hypoplasia
Clinodactyly of toes
Clinodactyly of fingers 1,2,3,4/overlapping fingers
Clinodactyly of fifth finger
Cleft/notched/bifid tongue
Cleft palate without cleft lip/submucosal cleft palate/bifid uvula
Cleft lip and palate
Cleft lip
Claw toes/retracted toes
Claw hand/retracted fingers
Clavicle absent/abnormal
Claudication/pain on mastication/while chewing
Clasp thumb/thumb adduction/distal thumb phalangeal bone deviated/large
Cirrhosis
Chronic/relapsing otitis
Chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
Chronic skin infection/ulcerations/ulcers/cancrum
Chronic obstructive pulmonary disease/COPD/obstructive respiratory syndrome
Chronic hiccup
Chronic hepatic failure
Chronic arterial hypertension
Chromosome breakage
Chromosomal or genetic anomaly
Choroidal anomalies/atrophy/choroideremia
Chorea/athetosis/choreoathetosis/choreic syndrome
Chondritis/cartilage inflammation
Choanal atresia
Cerebral vascular anomalies
Cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
Central neuropathy
Central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
Central deafness/hearing loss
Celosomia
Cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue
Cavernous/tuberous hemangioma
Cataract/lens opacification
Cartilage destruction/chondrolysis
Carpal bones fusion/synostosis
Carotid artery anomalies
Cardiomyopathy/hypertrophic/dilated
Cardiomegaly
Cardiac valvulopathy
Cardiac septal defect
Cardiac rhythm disorder/arrhythmia
Cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
Carbohydrates metabolism anomalies
Capillary hemangioma/nevus/naevus flammeus/port-wine stain
Camptodactyly of some fingers
Camptodactyly of fingers
Calcified/rigid ear cartilage
Calcification of cartilages/intraarticular calcification
Cafe-au-lait spot
Buphthalmos
Bulimia/hyperphagia
Build/stature/longevity anomalies
Brushfield spots
Bruisability
Bronchogenic cyst
Bronchiolitis
Bronchial dilation/dilatation/bronchiectasia
Broad/bifid thumb
Broad/bifid big toe
Broad nose/nasal bridge
Broad nasal root
Broad forehead
Broad foot
Broad cheeks/cherub-like/cherubin face
Broad alveolar ridge
Brittle hair/distrix/trichorrhexis
Breast tissue/mammary gland absence/aplasia
Breast neoplasm/tumor/carcinoma/cancer
Branchial/posterior auricular/preauricular/cheek cysts/fistulae
Branchial fistulae of the neck
Branchial archs anomalies
Brachycephaly/flat occiput
Bowed diaphysis/diaphyses/long bones
Bone/osseous neoplasm/tumor/carcinoma/cancer
Bone/osseous hypoplasia
Bone/osseous hyperplasia
Bone tumefaction/swelling
Bone pain
Bone marrow/medullar infiltration
Bone marrow failure/pancytopenia
Bone marrow anomalies
Bone cyst
Bone ankylosis
Blue sclerae
Blood hyperviscosity/hypercoagulability
Blepharophimosis/short palpebral fissures
Blepharitis/eyelid inflammation
Bladder/vesical lesions/glomerulations/petechiae
Bladder/vesical diverticulum
Bladder/cloacal exstrophy
Bladder inflammation/cystitis/painful/irritable bladder
Bladder and ureter anomalies
Biological inflammatory syndrome/increased erythrocyte sedimentation rate/CRP
Biliary/gallbladder stones/lithiasis/cholecystitis
Big toe anomaly (excluding absence)
Bifid/cleft ear lobe/ear lobe pits
Bifid tip/cleft nose/supernumerary nose
Bifid skull
Bifid scrotum
Benign tumor of the brain/nervous system
Beaked nose
Basilary impression/invagination/cranio-spinal malformation/platybasia
Azoospermia/oligospermia/asthenospermia
Autosomal recessive inheritance
Autosomal dominant inheritance
Autoimmunity/autoimmune reaction/autoantibodies
Auto-aggressivity/auto-mutilation
Autism/autistic disoders
Atrioventricular canal
Atrial septal defect/interauricular communication
Atelectasia/pulmonary collapse
Ataxia/incoordination/trouble of the equilibrium
Asymmetry of the body/hemiatrophy/hemihyperthrophy
Asymmetric rib cage/thorax
Astigmatism
Asthma/bronchospasm
Asthenia/fatigue/weakness
Asplenia/polysplenia/spleen lobulation/accessory spleen
Aseptic leukocyturia
Ascitis
Articular/joint pain/arthralgia
Arthrogryposis
Arthritis/synovitis/synovial proliferation
Arteriovenous malformations/vascular malformations (excluding port-wine stains)
Arterial stenosis/occlusion
Arterial rupture
Arterial pulse abolition
Arterial embolism/thrombosis
Arterial atheroma/precocious atherosclerosis/arteriosclerosis
Arterial aneurism (excluding aorta)
Arnold-Chiari anomaly
Areflexia/hyporeflexia
Apnea/sleep apnea
Aphalangia/hands and feet phalangeal bones absence/hypoplasia/aplasia
Aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus
Aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
Aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
Aortic root dilatation/dilation/aneurysm
Aortic dissection
Aortic dilatation/dilation
Aortic arches anomalies
Anus/rectum anomalies
Anus ectopia/anteposition/malposition
Antitragus abnormal
Antihelix anomaly
Anteverted nares/nostrils
Anterior chamber anomaly
Antenatal period/pregnancy anomalies
Antenatal exposure to infectious agent
Antenatal exposure : varicella
Antenatal exposure : toxoplasmosis
Antenatal exposure : sedatives
Antenatal exposure : rubella
Antenatal exposure : ionizing radiations
Antenatal exposure : influenza
Antenatal exposure : hormones
Antenatal exposure : cytomegalovirus
Antenatal exposure : cocaine/LSD
Antenatal exposure : chemical product
Antenatal exposure : anticonvulsants
Antenatal exposure : anticoagulants
Antenatal exposure : alcohol
Anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
Anorexia
Anophthalmos/anophthalmia/microphthalmos/microphthalmia
Anomaly/ectopia/hypoplasia/atresia of salivary glands/salivary duct
Anomaly of the pharynx/pharyngeal anomaly
Anomaly of pancreatic hormones
Anomalous pulmonary venous return
Anomalies of tongue, gingiva and oral mucosa
Anomalies of the ribs
Anomalies of the neck
Anomalies of the lymphatic system
Anomalies of the immunitary system
Anomalies of the hematological system
Anomalies of the endocrine glands
Anomalies of the abdominal wall
Anomalies of teeth and dentition
Anomalies of spine, vertebrae and pelvis
Anomalies of skin, subcutaneous tissue and mucosae
Anomalies of nose and olfaction
Anomalies of mouth, lip and philtrum
Anomalies of hands
Anomalies of eyes and vision
Anomalies of eyelids, eyelashes and lacrimal system
Anomalies of ear and hearing
Anomalies of complement
Anomalies of chest/thorax/trunk
Anomalies of cartilages, joints and periarticular tissue
Anomalies of bones/skeletal anomalies
Anodontia/oligodontia/hypodontia
Annular pancreas
Ankyloglossia/lingual synechiae
Ankle anomalies
Aniridia/iris hypoplasia
Angor pectoris/myocardial infarction
Angioedema/angioneurotic edema
Anetodermia/dermal atrophy
Anencephaly/acrania
Anaemia
Aminoacid metabolism anomalies/aminoaciduria
Amelia/tetramelia/hemimelia
Ambiguous genitalia
Alveolysis/paraodontitis
Alopecia
Alexia/agraphia/writing/reading troubles
Albinism (hair)
Agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
Agenesis/hypoplasia/aplasia of kidneys
Agammaglobulinemia/hypogammaglobulinemia/B-cell deficiency
Advanced bone age
Adrenal neoplasm/tumor/carcinoma/cancer
Adrenal glands anomalies
Adenoma sebaceum
Acute palsy
Acute leukemia
Acute ischemic syndrome
Acute ischemia of the lower limbs
Acute hepatic failure
Acute diarrhea
Acute arterial hypertension/hypertensive crisis
Acute abdominal pain/colic
Acromegaly
Acrocyanosis/Raynaud's phenomenon/vasomotor disorders
Acne/acnea
Achromatopsia/dyschromatopsia/daltonism/impaired colour vision
Acanthosis nigricans
Absent/small toenails/anonychia of feet
Absent/small fingernails/anonychia of hands
Absent/hypotonic/flaccid abdominal wall muscles
Absent/decreased/thin eyebrows
Absent/decreased lashes
Absent pectoral muscles
Absent nasal cartilage/hypermobile nose
Absent lobe/lung/segmentation defect/abnormal lobulation/sequestration
Absence of palmar creases
Abnormally placed nipples
Abnormal/polycystic ovaries
Abnormal/absent ossification
Abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
Abnormal vertebral size/shape
Abnormal VEP/Visual evoked potential
Abnormal toenails
Abnormal sole/deep creases
Abnormal scarring/cheloids/hypertrophic scars
Abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
Abnormal pigmentation of the oral mucosa/gingivae
Abnormal pigmentary skin changes/skin pigmentation anomalies
Abnormal odour of the urine
Abnormal nails colour/leukonychia/melanonychia
Abnormal muscle biopsy/muscle enzymes/CPK/LDH/aldolase/creatin phosphokinase
Abnormal liver lobulation
Abnormal implantation of hair
Abnormal hepatic enzymes/transaminases
Abnormal hair texture/hair dysplasia
Abnormal gait
Abnormal fingernails
Abnormal fat distribution/lipodystrophy
Abnormal fall of hair
Abnormal eye movements/oculomotor disorder
Abnormal erosion/resorption of teeth/odontolysis
Abnormal ERG/electroretinogram/electroretinography
Abnormal EMG/electromyogram/electropmyography
Abnormal dermatoglyphics
Abnormal dentition/dental position/implantation/unerupted/dental ankylosis
Abnormal cry/voice/phonation disorder/nasal speech
Abnormal colour of the urine/cholic/dark urines