107656002: congenitale anomalie (afwijkende morfologie)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
congenitale anomalie (afwijkende morfologie)	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some
congenitale anomalie (afwijkende morfologie)	Is a	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Absence of septum pellucidum	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Reduction anomaly of hypothalamus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Disorder of neuronal migration and differentiation	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Type 1 lissencephaly	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Miller Dieker syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Type 2 lissencephaly	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Neuronal heterotopia (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Nodular heterotopia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Laminar heterotopia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Cortical dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Localized cortical dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Cortical dysplasia with hemimegalencephaly	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Early secondary malformation of the central nervous system	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Schizencephaly	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Colpocephaly	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Microdysgenesis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Dysgenesis of the cerebellum	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Agenesis of cerebellum	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
unilaterale agenesie van cerebellum (situatie)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Aplasia of the vermis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Familial aplasia of the vermis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Gillespie syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Granular cell hypoplasia (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Cerebellar cortical dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Dysgenesis of the brainstem	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Olive dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Dentate dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Olivary heterotopia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Chiari malformation	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Chiari malformation type I (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Chiari malformation type III	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Chiari malformation type IV	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Abnormality of canalization and retrogressive differentiation (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Sacral dysgenesis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Lumbosacral agenesis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Fibrolipoma of filum terminale	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital malformation of the meninges	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Synophrys	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Absent eyebrow	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Double eyebrow	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Posteriorly rotated ear (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital cystic ear	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Branchial cleft sinus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Inferior vena cava connecting to coronary sinus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
congenitale hypoplasie van anulus fibrosus van aortaklep (aandoening)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Hypoplasia of aortic valve cusp	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Sinus of Valsalva aneurysm with rupture	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Abdominal aortic coarctation	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Midline facial cleft - Tessier cleft 0	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Midline facial cleft - Tessier cleft 14	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Midline facial cleft - Tessier cleft 30 (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Paramedian facial cleft - Tessier cleft 1	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Paramedian facial cleft - Tessier cleft 2	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Paramedian facial cleft - Tessier cleft 3	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 8	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 9	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 10 (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 11	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 12	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 13	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Infraorbital facial cleft - Tessier cleft 4 (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Infraorbital facial cleft - Tessier cleft 5	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Infraorbital facial cleft - Tessier cleft 6	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Infraorbital facial cleft - Tessier cleft 7	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Craniometaphyseal dysplasia - severe type	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Craniometaphyseal dysplasia - mild type	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Unbalanced translocation and insertion	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Partial trisomy 21 in Down's syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Partial trisomy 18 in Edward's syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Partial trisomy 13 in Patau's syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Whole chromosome trisomy meiotic nondisjunction (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Whole chromosome trisomy - mitotic nondisjunction mosaicism	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Triploidy and polyploidy	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Deletion of part of autosome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Balanced rearrangement and structural marker (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Balanced translocation and insertion in normal individual	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Sex chromosome abnormality - female phenotype	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Female with more than three X chromosomes (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Mosaicism - lines with various numbers of X chromosomes	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Sex chromosome abnormality - male phenotype	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Male with structurally abnormal sex chromosome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Male with sex chromosome mosaicism	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
FRAXA	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
FRAXE (aandoening)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital livedo reticularis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Cavernous lymphangioma of skin	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Misplaced ear	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
chromosoom vervangen door ringchromosoom of dicentrisch chromosoom	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Klinefelter's syndrome - male with more than two X chromosomes	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Whole chromosome monosomy - mitotic nondisjunction mosaicism (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Trisomy and partial trisomy of autosome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Meningomyelocele/myelocele	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Deletion with complex rearrangement (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Cerebral dysgenesis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Vascular loops of inner ear	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Vascular malformation of inner ear	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Atelencephaly	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Aprosencephaly	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital non-progressive ataxia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital abnormality of external ear	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
172092016	Congenital anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1190181000146119	aangeboren afwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1190191000146117	congenitale anomalie (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1829111000146118	congenitale anomalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)