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60475009: congenitale afwijking van extremiteit (aandoening)

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

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

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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	gebrekkige ontwikkeling (afwijkende morfologie)	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 (disorder)	false	Inferred relationship	Some
Congenital anomaly of limb	Associated morphology	congenitale anomalie (afwijkende morfologie)	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	congenitale anomalie (afwijkende morfologie)	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	gebrekkige ontwikkeling (afwijkende morfologie)	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	False	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
hemimelie (aandoening)	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
Waardenburg syndrome type 3 (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Lymphedema hypoparathyroidism syndrome (disorder)	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
Congenital primary lymphedema of Gordon (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Rhizomelic dysplasia (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Mesomelic dysplasia	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	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
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Femur-fibula-ulna complex (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some

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Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

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
1457051000146117	congenitale anomalie van extremiteit	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2545121000146112	congenitale afwijking van extremiteit (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2545131000146114	congenitale afwijking van extremiteit	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14195101000146110	aangeboren afwijking van ledemaat	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14196831000146118	congenitale misvorming van extremiteit	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)