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
Hereditary myopathy limited to females	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Severe autosomal recessive muscular dystrophy of childhood - North African type	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with gene located at 15q	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Reunion-Indiana Amish type muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Western type of congenital muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital muscular dystrophy with arthrogryposis multiplex congenita	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Ullrich congenital muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Eichsfeld type congenital muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Hutterite type of muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with limb girdle distribution	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with gene located at 5q31	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Late onset proximal muscular dystrophy with dysarthria	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
X-linked muscular dystrophy not predominantly limb girdle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Benign scapuloperoneal muscular dystrophy with cardiomyopathy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy not predominantly limb girdle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Scapulohumeral muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy not predominantly limb girdle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Benign scapuloperoneal muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Benign congenital muscular dystrophy with finger flexion contractures	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Distal muscular dystrophy with adult onset	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
hypotonie congénitale bénigne	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Autosomal recessive centronuclear myopathy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Myopathy with abnormality of histochemical fibre type	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Myopathy with type I hypotrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital myopathy with fibre type disproportion	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital myopathy with uniform fiber type	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Myopathy with tubular aggregates	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hereditary myositis ossificans	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Arthrogryposis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Multiple lentigines syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Malignant atrophic papulosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Longitudinal deficiency of tibia AND/OR fibula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital rectovaginal fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital rectovaginal fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Male pseudohermaphroditism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of genital system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Embryonic cyst of epoophoron	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Paraumbilical hernia with gangrene	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Cutis laxa, autosomal dominant	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Fukuyama congenital muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Merosin deficient congenital muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
dystrophie musculaire congénitale de Walker-Warburg	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Muscle-eye-brain disease, congenital muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Distal muscular dystrophy, Miyoshi type	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Becker muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
dystrophie musculaire d'Emery-Dreifuss	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Dickson-Diveley operation	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	5
Congenital anomaly of anus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Tendon transfer and arthrodesis to correct claw toe	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	3
Reduction of congenital hip dislocation by abduction	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Reduction of congenital hip dislocation by splint	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Reduction of congenital hip dislocation by traction	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Hemimyelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lipomeningocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lobar holoprosencephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
hémimégalencéphalie	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Synophrys	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Absent eyebrow	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Double eyebrow	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Coronary orifice asymmetrical	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dual coronary orifice	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Coronary orifice atresia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Abnormal coronary artery course	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Intramural coronary artery course	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Coronary artery runs between aorta and pulmonary trunk	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Circumflex runs posterior to pulmonary trunk	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Circumflex runs posterior to aorta	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Single coronary artery fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Multiple coronary artery fistulae	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Coronary fistulae from right ventricle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Coronary fistulae from left ventricle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital coronary artery calcification	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Right ventricle-dependent coronary circulation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Variant dominance of coronary circulation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Right dominant coronary system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Left dominant coronary system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Balanced coronary system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Partial agenesis of pericardium	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Totally absent pericardium	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pleuropericardial cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	6
Pericardial diverticulum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital tracheo-oesophageal cleft	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital malformation of salivary glands and ducts	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
sténose congénitale de l'œsophage	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital absence, atresia and stenosis of small intestine	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital functional disorders of the small intestine	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital dysmotility of small intestine (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital stenosis of colon	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital stenosis of appendix	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
High anorectal malformation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
malformation anorectale basse	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital fistula of rectum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital fistula of anus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1

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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