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 digit (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Patent vitelline duct (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Incomplete ossification of tympanic anulus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital hepatic fibrosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital tracheobronchomegaly (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Microglossia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Occult spinal dysraphism sequence	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Occult spinal dysraphism sequence	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Amyelia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital macular changes	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Sporadic megalencephaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Nemaline myopathy, late onset type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Earpit syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Malformation of throat	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of pelvic bones	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Encephalo-ophthalmic dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ji muscular dystrophy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of vas deferens	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital abnormality of hepatic vein (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital syringomyelia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Western type of congenital muscular dystrophy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital malposition of metacarpal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hereditary myopathy limited to females	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital epiblepharon-inferior oblique syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Café-au-lait macules with temporal dysrhythmia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Microblepharia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
communication interventriculaire subartérielle, subaortique et subpulmonaire	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Incomplete ossification of talus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
microgyrie (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital aphakia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Atelomyelia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Hepatomphalocele	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Camptodactyly-little finger	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Branchial cleft external sinus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ectopic pancreas in duodenum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital aplasia of inner ear	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Supernumerary centrum of lumbar vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cryptophthalmos syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Spinobulbar atrophy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
anomalie congénitale du cou	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Anomalies of cerebrum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Anomalies of pancreas	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Duplication of fibula	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital malposition of spleen	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Imperforate pectinate glaucoma	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Embryotoxon	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital hypoplasia of eye bulge	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital bent ilium	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
hydroméningocèle (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Complete phocomelia of upper limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Talipomanus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Central polydactyly of fingers	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital talipes calcaneus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital malposition of lung	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dwarf pelvis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of eye	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Focal nodular hypoplasia of liver	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Radial polydactyly Wassel 1	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Paraspadias	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of ulna (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cleft cartilaginous centrum of thoracic vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Nemaline myopathy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital cleft thyroid cartilage	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Benign congenital muscular dystrophy with finger flexion contractures	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital disorders of eye and eyelid movements	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital total cataract	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital anomaly of rib cartilage	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of peripheral nerve	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lumbar spina bifida with hydrocephalus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Lumbar spina bifida with hydrocephalus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Congenital abnormality of systemic vein (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Neurofibromatosis type 2	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Abnormal lung lobation	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Bifid epiglottis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of lacrimal gland	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital laryngomalacia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Incomplete ossification of arch of sacral vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Polydactyly of thumb (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of abdominal wall	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anterior polar cataract	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with limb girdle distribution	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Blepharophimosis syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome de Beckwith-Wiedemann	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Incomplete ossification of centrum of lumbar vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Pelvis plana	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital cystic disease of liver	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital diverticulum of bile duct	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital coloboma of optic disc	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Distal radioulnar synostosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Familial megalencephaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital contracted pelvis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital abnormal long growth of bile duct	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
iniencéphalie	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
iniencéphalie	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
anomalie congénitale de la trachée	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital thickening of talus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital malposition of metatarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Failure of differentiation of bones of forearm	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2

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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