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
Congenital stenosis of external auditory canal	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
4p partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Allantoic cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Anomaly of chromosome pair 13	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital stenosis of aortic valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Preauricular cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Syringomyelobulbia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
epidermodysplasie verruciforme	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital cerebral cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
8p partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
22q partial monosomy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
fossette préauriculaire	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Nodular calcific aortic valve stenosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
14q partial distal trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Complete trisomy 13 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
kyste colloïde du troisième ventricule	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Complete trisomy 14 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of middle ear	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie congénitale du système nerveux périphérique	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Chimera	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
9q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mandibular prognathism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Ring chromosome 20 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of peripheral nerve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Median mandibular cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Distal arthrogryposis syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Meromicrosomia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
iniencéphalie	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
iniencéphalie	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
iniencéphalie	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
7p partial monosomy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cat eye syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
11p partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Faun tail syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
syringobulbie (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Persistent thyroglossal duct	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Cervical auricle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie du chromosome 14	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Inherited arthrogryposis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
insuffisance congénitale de la valve aortique	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
anomalie du chromosome 10 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
13q partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
8q partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
1q partial monosomy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Thoracic spina bifida	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
syndrome du chromosome 21 en anneau (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Arteriohepatic dysplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
12p partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie du chromosome 17 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
craniorachischisis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
craniorachischisis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
spina bifida cervicale (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
anomalie du chromosome 2 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of the thyroid gland	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
7q partial trisomy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mandibular retrognathism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Trisomy X syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ligation of supernumerary toes	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Sex phenotype-karyotype dissociation syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
1p partial monosomy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Transposition of pulmonary veins	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
dysplasie cranio-métaphysaire (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
16q partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital enlargement of coronary sinus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
anomalie du chromosome 7 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
4q partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie du chromosome 12 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Functional asplenia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of integument	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital absence of skeletal muscle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
syndrome de Turner	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
XXXXY syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of spinal meninges	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
kyste du tractus thyréoglosse	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
anomalie congénitale du cou	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spina bifida without hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Spina bifida without hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital absence of coronary sinus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
12q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
syndrome de Down (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
11p partial monosomy syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
porokératose actinique superficielle disséminée	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
anomalie congénitale d'une glande endocrine	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
18p partial trisomy syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
18q partial monosomy syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital atresia of osseous meatus of middle ear	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Penta X syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
11q partial monosomy syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of inner ear	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
9q partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
chimère postirradiation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of organ of Corti	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie du chromosome 6 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
16q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Atelomyelia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
syndrome du chromosome 1 en anneau (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
anomalie du chromosome 8 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hypomyelinogenesis congenita (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
11q partial trisomy syndrome (disorder)	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