60475009: Congenital anomaly of limb (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of limb	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Congenital anomaly of limb	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Congenital anomaly of limb	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of limb	Associated morphology	anomalie du développement	false	Inferred relationship	Some
Congenital anomaly of limb	Is a	Disorder of limb (disorder)	true	Inferred relationship	Some
Congenital anomaly of limb	Is a	Congenital disease	false	Inferred relationship	Some
Congenital anomaly of limb	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of limb	Finding site	Limb structure	false	Inferred relationship	Some	1
Congenital anomaly of limb	Finding site	Limb structure	true	Inferred relationship	Some	1
Congenital anomaly of limb	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of limb	Is a	Congenital anomaly	false	Inferred relationship	Some
Congenital anomaly of limb	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of limb	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital anomaly of limb	Finding site	Limb structure	false	Inferred relationship	Some	2
Congenital anomaly of limb	Is a	Congenital malformation	true	Inferred relationship	Some
Congenital anomaly of limb	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of limb	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of limb	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present.	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Symmetrical dyschromatosis of extremities (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
A rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
hémimélie	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs.	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Grebe syndrome	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Adams-Oliver syndrome	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Longitudinal deficiency of part of limb (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene.	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993.	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Mesomelic dysplasia	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported.	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital dysplasia of limb (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Aplasia of limb	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Lethal congenital disproportionate short limbed short stature (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Congenital hypoplasia of limb (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
100477011	Congenital anomaly of limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
100480012	Congenital deformity of limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498748013	Congenital abnormality of the limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
799431015	Congenital anomaly of limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
123291000077111	anomalie congénitale d'un membre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3383671001000111	Extremitätenfehlbildung, kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module