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
11q partial trisomy syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
10p partial trisomy syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
17q partial trisomy syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
4p partial trisomy syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
diastématomyélie	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
anomalie du chromosome 9 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Double Y syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
22q partial trisomy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital atresia of aortic valve (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Complete trisomy 18 syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
17p partial trisomy syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Akabane virus disease (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Fetal disproportion due to fetal myelomeningocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
syndrome de Freeman-Sheldon (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Complete trisomy 20 syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie du chromosome 16 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Encephalocystocele (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
13p partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
2p partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
18p partial monosomy syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cervical thyroid remnant (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie du chromosome 5 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
nanisme à tête d'oiseau	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
nanisme à tête d'oiseau	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spinal cord dysplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
spina bifida aperta	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
spina bifida aperta	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
anomalie du chromosome 18 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
angiodysplasie ostéodystrophique	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
2q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
kyste de la fente branchiale (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
10p partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital anomaly of adrenal gland	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
syndrome de chromosome 9 en anneau	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hypoplasia of aortic arch	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Anomaly of chromosome pair 11	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Heterologous chimera	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Fragile X syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Rachischisis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Rachischisis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Homologous chimera	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Familial arthrogryposis-cholestatic hepatorenal syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
9p partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
15q partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Williams syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Alstrom syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Triploidy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomalous pulmonary venous drainage to superior vena cava	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
18q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sirenoform monster	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spina bifida	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Spina bifida	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of membranous labyrinth	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Partial anomalous pulmonary venous connection	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Complete trisomy 8 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Rothmund-Thomson syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
anomalie du chromosome 21	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
5p partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
15q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie du chromosome 22	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Occult spinal dysraphism sequence	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Meningomyelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Complete trisomy 22 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
valvule aortique bicuspide	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Polyploidy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
10q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Coarctation of aorta	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Accessory adrenal cortex	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hemimyelia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
5p partial trisomy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of pituitary gland	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Partial tetrasomy of chromosome 9 (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
maladie chromosomique congénitale	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Complete trisomy 9 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
XX males	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hydrorhachis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Anomaly of chromosome pair 1	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Amyelencephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Pleonotia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
14q partial trisomy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
19q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of ossicles of ear	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sotos' syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Septo-optic dysplasia sequence	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
6q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Angelman syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
spina bifida occulta (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
spina bifida occulta (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Amyoplasia congenita disruptive sequence	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Spina bifida of lumbar region	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Complete trisomy 16 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
3p partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
9p partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
8p partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Double aortic valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Complete trisomy 10 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
XXXY syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Complete monosomy 21 (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Amyelia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
1q partial trisomy syndrome (disorder)	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