107656002: Congenital anomaly (morphologic abnormality)

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
Congenital anomaly	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Congenital anomaly	est un(e) (attribut)	Developmental abnormality	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cervical myelocystocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Cervical myelocystocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Thoracic myelocystocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Thoracic myelocystocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Lumbar myelocystocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Lumbar myelocystocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Cervical spina bifida without hydrocephalus - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Cervical spina bifida without hydrocephalus - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Thoracic spina bifida without hydrocephalus - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Thoracic spina bifida without hydrocephalus - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Lumbar spina bifida without hydrocephalus - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Lumbar spina bifida without hydrocephalus - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sacral spina bifida without hydrocephalus - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Sacral spina bifida without hydrocephalus - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cervical spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Cervical spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Thoracic spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Thoracic spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Lumbar spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Lumbar spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Sacral spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Sacral spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Cranial hydromeningocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Reduction deformities of brain	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomalies of cerebrum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Agenesis of cerebrum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomalies of hypothalamus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomalies of cerebellum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Aplasia of cerebellum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cebocephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Defective development of the cauda equina	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Spinal cord hypoplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spinal cord hypoplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Middle ear anomaly, excluding ossicles	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ear osseous meatus atresia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ear osseous meatus stricture	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Accessory tragus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Branchial cleft, cyst or fistula; preauricular sinus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Branchial cleft, cyst or fistula; preauricular sinus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Branchial cleft external sinus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Branchial cleft internal sinus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Preauricular sinus and fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Cervicoaural fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Cervicoaural fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Subdiaphragmatic total anomalous pulmonary venous return	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Supradiaphragmatic total anomalous pulmonary venous return	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Antimongolism syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Deletion of long arm of chromosome 13	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Balanced autosomal translocation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Whole chromosome trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy 6	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy 7	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy 8	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy 9	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy 10	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy 11	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy 12	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy 22	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Whole chromosome trisomy, meiotic nondisjunction (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Whole chromosome trisomy, mosaicism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Partial trisomy syndromes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Turner's phenotype, karyotype normal	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
XY, female phenotype	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Klinefelter's syndrome, XXYY	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Klinefelter's syndrome, XY/XXY mosaic	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Additional sex chromosome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sex chromosome mosaicism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mosaic XO/XY	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mosaic XO/XX	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mosaic XY/XXY	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mosaic including XXXXY	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duplication of chromosome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Acephalothorax	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Preauricular sinus, pit or fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Thoracolumbar spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Thoracolumbar spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Fissured spine	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Fissured spine	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Myelocele with hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Closed spina bifida with Arnold-Chiari malformation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Closed spina bifida with Arnold-Chiari malformation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Arachnoid / ependymal cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Mermaid sirenomelia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hypoplasia of brain gyri	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital stricture of osseous meatus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Branchial cleft	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Malformation of throat	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
absence de chromosome sexuel	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pseudotrisomy 18	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Autosomal deletion - mosaicism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spina bifida without hydrocephalus - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Spina bifida without hydrocephalus - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Ear auricle and external auditory canal absent	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
cavité et fistule d'une fente branchiale	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Deletion of long arm of chromosome 18	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Deletion of short arm of chromosome 18	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
malformation congénitale de l'oreille	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1

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Reference Sets

Concept inactivation indicator reference set

Description inactivation indicator reference set

GB English

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
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
561791000077117	anomalie congénitale (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core