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
Klinefelter's syndrome NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other sex chromosome anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sex chromosome mosaicism NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other sex chromosome abnormality NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sex chromosome anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Chromosomal anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mosaicism NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Additional chromosome NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Deletion of chromosome NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Conditions due to anomaly of unspecified chromosome NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified anomalies of adrenal gland	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other congenital anomaly of adrenal gland NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomalies of adrenal gland NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other endocrine gland anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of pituitary gland NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomalies of thyroid gland NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of thyroid gland NEC NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomalies of thyroglossal duct NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified endocrine gland anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Endocrine gland anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Congenital malformations of the nervous system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other reduction deformities of brain	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified congenital malformations of brain	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital cauda equina malformations	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified congenital malformations of spinal cord	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified congenital malformations of nervous system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital malformations of middle ear	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Malformation of ear with impairment of hearing, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other mis-shapen ear	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified congenital malformations of ear	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other branchial cleft malformations	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Chromosomal abnormalities, not elsewhere classified (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified trisomies and partial trisomies of autosomes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other deletions of part of a chromosome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other deletions from the autosomes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other balanced rearrangements and structural markers	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Balanced rearrangement and structural marker, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other variants of Turner's syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified sex chromosome abnormalities, female phenotype	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other male with 46,XX karyotype	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified sex chromosome abnormalities, male phenotype	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified chromosome abnormalities	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Sex chromosome abnormality, male phenotype, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Aplasia of part of brain NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hypoplasia of part of brain NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Agenesis of part of brain NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Absence of ear NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Aneuploidy NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Down's syndrome NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Edward's syndrome NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Patau's syndrome NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ovarian dwarfism NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bonnevie-Ullrich syndrome NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spina bifida with hydrocephalus - closed NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Spina bifida with hydrocephalus - closed NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Spina bifida without mention of hydrocephalus, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Spina bifida without mention of hydrocephalus, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Spina bifida without hydrocephalus - closed NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Spina bifida without hydrocephalus - closed NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified spina bifida without hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Other specified spina bifida without hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spina bifida without mention of hydrocephalus NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Spina bifida without mention of hydrocephalus NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Reduction deformities of brain NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified anomalies of spinal cord	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Balanced rearrangements and structural markers NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified conditions due to autosomal anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Unspecified conditions due to autosomal anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Turner's phenotype, other variant karyotypes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Turner's syndrome NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified sex chromosome anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital CNS anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital arthrogryposis due to teratogen	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Translocation Down syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital syringomyelia (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Ectopic gastric mucosa - multiple sites (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Chiari malformation type II (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pallister-Killian syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital fibrosis syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital fibrosis of inferior rectus muscle (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Dysplasia of cerebral cortex (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Port-wine stain associated with spinal dysraphism (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Aplasia cutis in Trisomy 13 syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Café-au-lait spots and ring chromosome 11 (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Autosomal chromosomal disorder (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
XXYY syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Poly Y syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hereditary neurocutaneous angiomata (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Hereditary neurocutaneous angiomata (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital dystrophy	est un(e) (attribut)	False	Congenital anomaly	Inferred relationship	Some
Spina bifida with hydrocephalus of late onset	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Spina bifida with hydrocephalus of late onset	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Sturge-Weber syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sturge-Weber syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Axenfeld anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Axenfeld anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of uvula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1

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Description inactivation indicator reference set

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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