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
Preauricular sinus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
microtie (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital failure of eye elevation	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital emphysema (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Calcaneonavicular bar	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital ectropion of lip	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital malformation of sternum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
dystrophie musculaire distale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital thoracostenosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Duplication of lower limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Arteriohepatic dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Lack of ossification of humerus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of premaxilla	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of nasal turbinate	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of thoracic cage	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
anomalie congénitale du système nerveux périphérique	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital omphalocele	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Lack of ossification of tympanic anulus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital keratoconus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Cervical spina bifida without hydrocephalus - open	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Cervical spina bifida without hydrocephalus - open	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital cyst of mediastinum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Cortical dysplasia with hemimegalencephaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome de prune belly avec sténose pulmonaire, arriération mentale et surdité	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital malposition of rib	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital stricture of osseous meatus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lumbar spina bifida without hydrocephalus - open	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Lumbar spina bifida without hydrocephalus - open	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Autosomal dominant muscular dystrophy with gene located at 5q31	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of calcaneus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital absence of forearm with hand AND fingers	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ecchordosis physaliphora	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Coloboma of eyelid	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of inner ear	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
phocomélie d'un membre supérieur	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Acephalorhachia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
anomalie du tube neural	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hydrorhachis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital undergrowth of foot	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Muscular ventricular septum defect	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Swan's syndrome II	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital forefoot varus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Distal interphalangeal joint symphalangism	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Perimembranous ventricular septal defect with extension to right ventricular trabecular component	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital cyst of iris	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Spina bifida with hydrocephalus of late onset	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Spina bifida with hydrocephalus of late onset	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Angelman syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dumbbell ossification of centrum of cervical vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Imperforate lacrimal punctum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital malformation of the respiratory system	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital malposition of talus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Perimembranous ventricular septal defect with extension to right ventricular outlet	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital muscular dystrophy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Megalocornea	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of peritoneum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital liver grooves	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ectopic liver	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
phimosis congénital	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Distal muscular dystrophy with adult onset	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital abnormality of pulmonary trunk (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of ischium	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Omphalocele - irreducible	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Congenital subluxation of carpus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
amputation congénitale d'un membre supérieur	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
hémimégalencéphalie	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Rachischisis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Rachischisis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital anomaly of vulva	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital instability of hip joint	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital claw foot	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dumbbell ossification of centrum of thoracic vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dumbbell ossification of centrum of thoracic vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Delayed closure of patent arterial duct	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Overgrowth of whole upper limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital blepharophimosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Incomplete ossification of carpal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital posterior polar cataract	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Olivary heterotopia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of organ of Corti	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Patent ductus arteriosus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital abnormality of Eustachian tube	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of carpal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Branchial cleft internal sinus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Transverse arrest metacarpal first ray	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Nasal encephalocele	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Cleidocranial dysostosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Congenital cysts of the posterior segment	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital cleft hand	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Bipartite ossification of centrum of lumbar vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital chordee	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of epididymis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital anomaly of middle ear	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of neural structure of trunk	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of cornea	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital malposition of thoracic vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of muscle AND/OR tendon	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Omphalocele with gangrene	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6

Start Previous Page 27 of 73 Next End

Reference Sets

Canada English language reference set (foundation metadata concept)

Concept inactivation indicator reference set

GB English

US English

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

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