21390004: Developmental anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental abnormality	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Developmental abnormality	est un(e) (attribut)	Congenital anomaly	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital anomaly of body cavity	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Central nervous system malformation in fetus affecting obstetrical care	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Duplication of upper limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of penis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Facioscapulohumeral muscular dystrophy (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
X-linked muscular dystrophy with limb girdle distribution	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Ulnar polydactyly of fingers	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ulnar and humeroulnar synostosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Branchial cleft anomaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital blindness	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of gallbladder (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cervical spina bifida with hydrocephalus - open	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Cervical spina bifida with hydrocephalus - open	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Congenital thickening of ilium	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Pelvis justo major	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Sacralization of lumbar vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital lobar emphysema	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Type 2 lissencephaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Arthrogryposis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Rudimentary tracheal bronchus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Polymelia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital fusion of ossicles of ear (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dysgenesis of the brainstem	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital fissure of epiglottis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital corneal opacity with visual deficit	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Klein-Waardenberg's syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Robert's pelvis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital tarsal kink (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital myogenic ptosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Abnormal course of aortic arch (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dumbbell ossification of centrum of sacral vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Transverse arrest metacarpal second to fifth rays	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
polydactylie	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ovarian dysgenesis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Sacral spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Sacral spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Lack of ossification of centrum of lumbar vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Vesicular appendix of ovary	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
malformation congénitale de l'oreille	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital branched rib	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of sacral vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
anomalie congénitale de l'encéphale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital folds of the posterior segment	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
anomalie congénitale du poumon	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Anomaly of cricoid cartilage	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital misalignment of rib	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Bilateral trilobed lungs due to isomerism of right lung (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Spondyloschisis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Becker muscular dystrophy (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Intrauterine amputation of lower limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital non-progressive ataxia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Defective development of the cauda equina	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Late onset proximal muscular dystrophy with dysarthria	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Restrictive ventricular septal defect	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Talipes calcaneovarus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Manifesting female carrier of X-linked muscular dystrophy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome de Holt-Oram	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Trifid tongue	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Myopathy with cytoplasmic inclusions	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
spina bifida occulta (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
spina bifida occulta (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Sacral spina bifida with hydrocephalus - closed	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Sacral spina bifida with hydrocephalus - closed	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital anomaly of sternocleidomastoid muscle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dumbbell-shaped cartilaginous centrum of thoracic vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital laryngeal adductor palsy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of rib	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Multiple café-au-lait macules due to neurofibromatosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Midline cervical cleft (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Midline cervical cleft (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Midline cervical cleft (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Incomplete ossification of arch of lumbar vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital subglottic web of larynx	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Sacral agenesis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Alacrima	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Myopathy with type I hypotrophy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of femur	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Celoschisis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Irido-trabecular dysgenesis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital malposition of pubis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hanhart's syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Severe X-linked myotubular myopathy (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hydromyelia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Oculopharyngeal muscular dystrophy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Bifid tongue	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Acrosyndactyly of the fingers	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Coloboma of choroid	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital ovarian dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Megacystis, microcolon, hypoperistalsis syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Barkan membrane	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of abdomen	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Osteopetrosis - delayed type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Middle ear anomaly, excluding ossicles	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hydromyelocele with hydrocephalus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Spina bifida without hydrocephalus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Spina bifida without hydrocephalus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital anomaly of retina (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Spina bifida aperta of thoracic spine (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Spina bifida aperta of thoracic spine (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Perimembranous ventricular septal defect	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Neurocutaneous syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3

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Id	Description	Lang	Type	Status	Case?	Module
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
183282017	Developmental anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190336012	Developmental malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190337015	Developmental defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190338013	Dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190339017	Anomalous formation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190340015	Abnormal development	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190341016	Malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
64781000077117	anomalie du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
686791000077119	anomalie du développement (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core