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60475009: Congenital anomaly of limb (disorder)

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

Descriptions:

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
100477011 Congenital anomaly of limb en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character 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
3383671001000111 Extremitätenfehlbildung, kongenitale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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

1605 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Is a Disorder of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of limb Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of limb Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of limb Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of limb Is a Congenital anomaly false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of limb Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of limb Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of limb Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of limb Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of limb Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
Limb mammary syndrome Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Radio-renal syndrome (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Symmetrical dyschromatosis of extremities Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pseudoarthrosis of limb (disorder) Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Radial deficiency, tibial hypoplasia syndrome Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type I Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
hémimélie Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Grebe syndrome Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Adams-Oliver syndrome Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of part of limb (disorder) Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
14q22q23 microdeletion syndrome Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder) Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Hennekam lymphangiectasia-lymphoedema syndrome Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital primary lymphedema of Gordon (disorder) Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic dysplasia (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dysplasia of limb (disorder) Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of limb Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)

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