| Members |
targetComponentId |
| Congenital club: [hand] or [fingers] |
Talipomanus |
| Congenital constriction ring with lymphoedema |
Constriction ring of upper limb with lymphedema |
| Congenital cranial osteoporosis |
Craniotabes |
| Congenital cyst of canal of Nuck |
Congenital cyst of canal of Nuck |
| Congenital cyst of canal of Nuck |
Hydrocele of canal of Nuck |
| Congenital cystic ear |
Preauricular cyst (disorder) |
| Congenital cysts of the posterior segment |
Congenital cyst of posterior segment of eye |
| Congenital debility of fetus |
Failure to thrive |
| Congenital debility of fetus |
Neonatal disorder |
| Congenital debility of fetus |
Fetal disorder |
| Congenital deformities: [skull] &/or [face] &/or [jaw] |
Congenital anomaly of jaw |
| Congenital deformity of clavicle (& [agenesis]) |
Agenesis of clavicle |
| Congenital deformity of clavicle (& [agenesis]) |
Congenital deformity of clavicle |
| Congenital diaphragmatic: [hernia] or [defect NEC] |
Congenital diaphragmatic hernia |
| Congenital diplegia |
A form of spastic cerebral palsy affecting two limbs; usually the legs are affected more than the arms. |
| Congenital diplegia |
A form of spastic cerebral palsy affecting the lower half of the body, including both legs. |
| Congenital disease and abnormality of heart, thoracic aorta and pericardium |
Multiple system malformation syndrome |
| Congenital dislocation and subluxation of the hip |
Congenital dislocation of hip |
| Congenital dislocation of elbow |
Dislocation of joint of upper limb |
| Congenital dislocation of elbow |
Congenital dislocation of elbow (disorder) |
| Congenital dislocation of one hip with subluxation of other |
Congenital dislocation of left hip co-occurrent with congenital subluxation of right hip (disorder) |
| Congenital dislocation of one hip with subluxation of other |
Congenital dislocation of right hip co-occurrent with congenital subluxation of left hip (disorder) |
| Congenital disorders of eye and eyelid movements |
Congenital structural abnormality of eyelid |
| Congenital disorders of eye and eyelid movements |
Congenital anomaly of eye |
| Congenital disorders of eye and eyelid movements |
Movement of eyelid - finding |
| Congenital displaced uterus (& [prolapse]) |
Malposition of uterus |
| Congenital displaced uterus (& [prolapse]) |
Congenital prolapsed uterus |
| Congenital diverticulum of esophagus |
Congenital diverticulum of esophagus |
| Congenital ectodermal dysplasia of face |
Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described. FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies. |
| Congenital ectopia (morphologic abnormality) |
Choristoma (morphologic abnormality) |
| Congenital ectopia (morphologic abnormality) |
Congenital ectopia (morphologic abnormality) |
| Congenital epulis of newborn |
Congenital gingival granular cell tumor |
| Congenital epulis of newborn |
Congenital epulis of newborn |
| Congenital exostosis (& [multiple]) |
Congenital exostosis |
| Congenital exostosis (& [multiple]) |
Multiple congenital exostosis |
| Congenital face or neck anomaly NOS |
Congenital anomaly of neck |
| Congenital face or neck anomaly NOS |
Congenital anomaly of face (disorder) |
| Congenital failure of fusion with herniated tissue |
Developmental failure of fusion (morphologic abnormality) |
| Congenital fascial dystrophy |
Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described. |
| Congenital fusion of spine (& [lumbosacral]) |
Congenital lumbosacral fusion (disorder) |
| Congenital fusion of spine (& [lumbosacral]) |
Congenital fusion of spine |
| Congenital glaucoma |
Buphthalmos (finding) |
| Congenital glaucoma |
Primary congenital glaucoma (disorder) |
| Congenital glaucoma |
Primary congenital glaucoma (disorder) |
| Congenital glaucoma |
Buphthalmos (finding) |
| Congenital hallux valgus |
Congenital hallux valgus |
| Congenital hallux valgus |
Hallux valgus |
| Congenital heart and cardiac apex malposition (& [ectopic heart]) |
Congenital malposition of heart |
| Congenital heart and cardiac apex malposition (& [ectopic heart]) |
Ectopia cordis |
| Congenital heart anomaly NOS |
Congenital heart disease |
| Congenital heart anomaly NOS |
Congenital heart disease |
| Congenital hyperammonemia, type I |
A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. |
| Congenital hyperrotation |
Congenital malrotation |
| Congenital hypertrophy of eye bulge |
Congenital hypertrophy of retinal pigment epithelium |
| Congenital hypertrophy of eye bulge |
Congenital exophthalmos |
| Congenital hypodontia, multiple teeth, related to systemic disease |
Anodontia |
| Congenital hypodontia, multiple teeth, related to systemic disease |
Partial congenital absence of teeth |
| Congenital hypodontia, multiple teeth, unrelated to systemic disease |
Partial congenital absence of teeth |
| Congenital hypodontia, multiple teeth, unrelated to systemic disease |
Anodontia |
| Congenital hypoplasia of renal papilla |
Congenital hypoplasia of renal papilla (disorder) |
| Congenital hypoplasia of renal papilla |
Congenital small renal papilla |
| Congenital hypothyroidism: [cretinism] or [NOS] |
Congenital hypothyroidism |
| Congenital infection: [NOS] or [cytomegalovirus] or [herpes simplex] or [toxoplasmosis] |
Congenital cytomegalovirus infection |
| Congenital infection: [NOS] or [cytomegalovirus] or [herpes simplex] or [toxoplasmosis] |
Congenital cytomegalovirus infection |
| Congenital infection: [NOS] or [cytomegalovirus] or [herpes simplex] or [toxoplasmosis] |
Congenital toxoplasmosis |
| Congenital infection: [NOS] or [cytomegalovirus] or [herpes simplex] or [toxoplasmosis] |
Congenital toxoplasmosis |
| Congenital integument anomalies (& [birthmark NOS]) |
Congenital anomaly of integument |
| Congenital kyphoscoliosis |
Kyphoscoliosis deformity of spine (disorder) |
| Congenital kyphoscoliosis |
Congenital kyphoscoliosis (disorder) |
| Congenital kyphoscoliosis |
Acquired kyphoscoliosis (disorder) |
| Congenital kyphosis |
Congenital kyphosis |
| Congenital kyphosis |
Acquired kyphosis (disorder) |
| Congenital kyphosis |
Kyphosis deformity of spine (disorder) |
| Congenital lens: [ectopic] or [displaced] or [dislocation] |
Congenital ectopic lens |
| Congenital limb deformities (& [Madelung's wrist]) |
Congenital anomaly of limb |
| Congenital limb deformities (& [Madelung's wrist]) |
Madelung's deformity (disorder) |
| Congenital limb deformities (& [Madelung's wrist]) |
Leri-Weill dyschondrosteosis |
| Congenital limb deformities (& [Madelung's wrist]) |
Congenital anomaly of limb |
| Congenital lip: [fistula] or [pits] |
Congenital fistula of lip |
| Congenital lip: [fistula] or [pits] |
Congenital lip pits |
| Congenital lipoatrophic diabetes |
Congenital total lipodystrophy (disorder) |
| Congenital lobar emphysema |
Congenital lobar emphysema |
| Congenital lordosis &/or scoliosis |
Congenital lordosis deformity of spine (disorder) |
| Congenital lordosis &/or scoliosis |
Congenital postural scoliosis |
| Congenital lordosis &/or scoliosis |
Congenital lordosis and scoliosis deformity of spine (disorder) |
| Congenital lordosis &/or scoliosis |
Congenital lordosis deformity of spine (disorder) |
| Congenital lordosis &/or scoliosis |
Congenital lordosis and scoliosis deformity of spine (disorder) |
| Congenital lordosis &/or scoliosis |
Congenital postural scoliosis |
| Congenital lymphoedema |
Hereditary lymphedema type I (disorder) |
| Congenital lymphoedema |
Hereditary lymphedema |
| Congenital macular changes |
Congenital anomaly of macula |
| Congenital malformation |
Morphologically abnormal structure |
| Congenital malformation of the skin |
Congenital anomaly of skin |
| Congenital malformation of the skin |
Congenital anomaly of integument |
| Congenital malformation syndrome affecting facial appearance NOS |
Congenital anomaly of face (disorder) |
| Congenital malformation syndrome affecting facial appearance NOS |
Multiple malformation syndrome with facial defects as major feature |
| Congenital malformation syndrome due to known exogenous cause |
Congenital malformation syndrome (disorder) |
| Congenital malformation syndrome involving limbs NOS |
Congenital anomaly of limb |
| Congenital malformation syndrome involving limbs NOS |
Multiple malformation syndrome with limb defect as major feature |
| Congenital malformation syndrome with metabolic disturbance NOS |
Congenital malformation syndrome (disorder) |
| Congenital malformation syndrome with metabolic disturbance NOS |
Inborn error of metabolism |
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