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 cyst of adrenal gland	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Carpenter's syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spinobulbar atrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ectopic thyroid tissue	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hypothyroidism with ectopic thyroid	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital mandibular asymmetry	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital horizontal mandibular hyperplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital vertical mandibular hyperplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital transverse mandibular hyperplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital alveolar hyperplasia of mandible	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital horizontal mandibular hypoplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital vertical mandibular hypoplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital transverse mandibular hypoplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital alveolar hypoplasia of mandible	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
21q partial distal trisomy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
21q partial trisomy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Multiple congenital anomalies	est un(e) (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital polyneuropathy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital neuropathy with arthrogryposis multiplex congenita	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital neuropathy with arthrogryposis multiplex congenita	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital hypomyelinating neuropathy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
polyneuropathie syphilitique congénitale tardive	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Late secondary abnormalities of the central nervous system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Multicystic encephalomalacia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Periventricular leukomalacia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Neuronal choristoma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
General fibrosis syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Strabismus fixus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Vertical retraction syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital cholesteatoma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Structural anomaly of the cochlea and vestibular labyrinth	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete formation of the bony cochlea	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mondini defect	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dilatation of the vestibular aqueduct	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dilatation of semicircular canal	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Calcific aortic stenosis - bicuspid valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Vascular neurocutaneous syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Vascular neurocutaneous syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Parkes Weber syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Diffuse arteriovenous fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Arthrogryposis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
8q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ring chromosome 11 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
20p partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of chromosome X	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Total anomalous pulmonary venous return	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Hydromyelia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Morning glory disc (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bicuspid doming of aortic cusp	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
anomalie du tube neural	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie du tube neural	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Hemimyelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Hemimyelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Lipomeningocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Lipomeningocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Myelodysplasia of spinal cord	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Myelodysplasia of spinal cord	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Spinal hamartoma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Spinal hamartoma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Neuroenteric cyst and associated malformation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Neuroenteric cyst and associated malformation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
kyste neurentérique	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
kyste neurentérique	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Abnormality of neurogenesis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Defect of telencephalic division	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
absence du septum pellucidum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Reduction anomaly of hypothalamus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Disorder of neuronal migration and differentiation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Type 1 lissencephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Miller Dieker syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Type 2 lissencephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Neuronal heterotopia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Nodular heterotopia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Laminar heterotopia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cortical dysplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Localized cortical dysplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cortical dysplasia with hemimegalencephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Early secondary malformation of the central nervous system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Schizencephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Colpocephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
microdysgénésie	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
dysgénésie du cervelet	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Agenesis of cerebellum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Unilateral agenesis of cerebellum (situation)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Aplasia of the vermis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Familial aplasia of the vermis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Gillespie syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Granular cell hypoplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cerebellar cortical dysplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dysgenesis of the brainstem	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Olive dysplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dentate dysplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Olivary heterotopia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Chiari malformation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
malformation de Chiari de type 1	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Chiari malformation type III	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Chiari malformation type IV	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Abnormality of canalization and retrogressive differentiation (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sacral dysgenesis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lumbosacral agenesis	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