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 anomaly of mandible	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Longitudinal deficiency of phalanges of foot	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of tongue	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital gastrointestinal-urinary tract fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Craniofacial microsomia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Fallopian tube and broad ligament anomalies, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lobulated tongue	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Megacystis, microcolon, hypoperistalsis syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Supernumerary lacrimal punctum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
L - transposition of the great vessels (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duplication of whole lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pili torti-deafness syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital anomaly of face bones	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ductus venosus abnormality	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Female epispadias (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital absence of both testes (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Other fallopian tube and broad ligament anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duplication of lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Deep hemangioma of skin (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	5
Accessory tissue on aortic valve cusp	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Multiple neurofibromas in neurofibromatosis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Agenesis of nasolacrimal duct	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anterior perimaxillary faciosynostosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of rib cartilage	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sacral spina bifida with hydrocephalus - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	6
Neurofibromatosis type 1	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital stenosis of tricuspid valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Myxoid transformation of tricuspid valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital fissure of tongue	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Abnormal palmar creases	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital tracheomalacia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lumbar spina bifida with hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	7
Hydromyelocele with hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	6
[X]Other phakomatoses, not elsewhere classified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Exencephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Exencephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
ectropion congénital (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Congenital fissure of epiglottis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Elephantiasis neurofibromatosa (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Other fallopian tube or broad ligament anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Absent right superior vena cava	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Swan's syndrome II	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital eyelid deformity NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital synostosis of lower limb bones	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of superior vena cava	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital pulmonary venous atrium	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Cervical spina bifida with hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	7
syndrome de Papillon-Lefèvre (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital entropion	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Microgenia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital dilatation of subclavian artery	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Incomplete ossification of mandible	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital degeneration	est un(e) (attribut)	False	Congenital anomaly	Inferred relationship	Some
Triploidy, diploidy, mixoploidy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Four X syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
13q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Branchial vestige	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital mandibular hyperplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Iniencephaly - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Iniencephaly - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Iniencephaly - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Iniencephaly - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Iniencephaly - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Iniencephaly - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Thoracic spina bifida with hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Thoracic spina bifida with hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Lissencephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Single congenital cerebral cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Multiple congenital cerebral cysts	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital abnormality of Eustachian tube	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital stenosis of eustachian tube	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Preauricular sinus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital deformity of spine	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Trisomy 21- meiotic nondisjunction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Trisomy 21- mitotic nondisjunction mosaicism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Trisomy 13, meiotic nondisjunction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy 13 - mitotic nondisjunction mosaicism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy 18 - meiotic nondisjunction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Trisomy 18 - mitotic nondisjunction mosaicism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Monosomy and deletion from autosome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Deletion seen only at prometaphase	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Whole chromosome monosomy - meiotic nondisjunction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Monosomy 21, mosaicism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Major partial trisomy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Minor partial trisomy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duplication seen only at prometaphase	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duplication with other complex rearrangement	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Extra marker chromosomes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Chromosome inversion in normal individual	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Balanced autosomal rearrangement in abnormal individual	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Balanced sex/autosomal rearrangement in abnormal individual	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Individual with marker heterochromatin	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Individual with autosomal fragile site	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Karyotype 46, X iso (Xq)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Karyotype 46, X with abnormal sex chromosome except iso (Xq)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mosaicism 45, X / other cell line with abnormal sex chromosome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Klinefelter syndrome, male with 46,XX karyotype (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Chimera 46, XX; 46, XY	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
46, XX true hermaphrodite	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Fragile X chromosome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital cyst of adrenal gland	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2

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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