60475009: Congenital anomaly of limb (disorder)

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

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

\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb
\Disease\Congenital disease (disorder)\Congenital malformation\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:

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

2007641000052111 medfödd missbildning av extremitet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

4853941000052112 medfödd anomali av extremitet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	utvecklingsabnormitet	false	Inferred relationship	Some
Congenital anomaly of limb	Is a	Disorder of extremity (disorder)	true	Inferred relationship	Some
Congenital anomaly of limb	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Congenital anomaly of limb	Associated morphology	kongenital anomali	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	kongenital anomali	false	Inferred relationship	Some	1
Congenital anomaly of limb	Is a	kongenital anomali	false	Inferred relationship	Some
Congenital anomaly of limb	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of limb	Associated morphology	utvecklingsabnormitet	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 (morphologic abnormality)	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
Heart defect and limb shortening syndrome (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Limb mammary syndrome (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Radio-renal syndrome (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Symmetrical dyschromatosis of extremities	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Robinow syndrome	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Congenital pseudoarthrosis of limb (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Radial deficiency, tibial hypoplasia syndrome	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Oto-palato-digital syndrome, type I	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
hemimeli	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Carpotarsal osteochondromatosis (disorder)	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	True	Congenital anomaly of limb	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	True	Congenital anomaly of limb	Inferred relationship	Some

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This concept is not in any reference sets