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
1q partial trisomy syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of chromosome pair 19	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Known OR suspected fetal hydrocephalus affecting obstetrical care	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of spinal cord	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
7q partial monosomy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of chromosome Y	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hydromeningomyelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Ring chromosome 4 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
XY females	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
7p partial trisomy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Caudal regression syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
14q partial proximal trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital mandibular hypoplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
6p partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of ear	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
chondrodystrophie malacique	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Congenital accessory skin tag	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Anomaly of chromosome pair 4	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ring chromosome 10 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of head	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hyperplastic chondrodystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Ring chromosome 18 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
16p partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of nervous system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
4q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Prader-Willi syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Persistent lanugo	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
3q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital absence of hyoid bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital absence of hyoid bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital absence of mandible	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital absence of tympanic anulus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Cleft face	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Cleft mandible	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormal fusion of mandible	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormal fusion of tympanic anulus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormal shape of aortic valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormal shape of hyoid bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormal shape of hyoid bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital abnormal shape of mandible	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormal shape of spleen	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormal shape of tympanic anulus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital absence of aortic valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
courbure congénitale de l'os hyoïde	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
courbure congénitale de l'os hyoïde	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital absence of spleen	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital cyst of spleen	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital hypertrophy of aortic valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital exophthalmos	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital fenestration of premaxilla	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital hypoplasia of aortic valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital hypoplasia of hyoid bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital hypoplasia of hyoid bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital hypoplasia of premaxilla	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital hypoplasia of spleen	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital hypoplasia of tympanic anulus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Holorachischisis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Holorachischisis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Incomplete ossification of tympanic anulus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lack of ossification of auditory ossicles	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
tétrasomie 12p (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of sex chromosome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital blindness	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital displacement of punctum lacrimale	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital strabismus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital flaccid paralysis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hearing disorder	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital deafness	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of chromosome pair 20	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of chromosome pair	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of epidermal appendages	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Syringomyelia and syringobulbia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Acrania	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Acrania	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Spina bifida with stenosis of aqueduct of Sylvius	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spina bifida without mention of hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Spina bifida without mention of hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Cervical spina bifida without mention of hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Cervical spina bifida without mention of hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Thoracic spina bifida without mention of hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Thoracic spina bifida without mention of hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Lumbar spina bifida without mention of hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Lumbar spina bifida without mention of hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Spinal hydromeningocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Cervical spinal hydromeningocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Cervical hydromyelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Thoracic hydromyelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Lumbar hydromyelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Spinal meningocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Cervical spinal meningocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Thoracic spinal meningocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Lumbar spinal meningocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Cervical meningomyelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Thoracic meningomyelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Lumbar meningomyelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Cervical myelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Thoracic myelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Lumbar myelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
myélocystocèle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
myélocystocèle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Cervical myelocystocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2

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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