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 nasal sinuses	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Short rib-polydactyly syndrome, non-Majewski type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Short rib-polydactyly syndrome, non-Majewski type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Iniencephaly - closed	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Iniencephaly - closed	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Pure gonadal dysgenesis 46,XX	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital honeycomb lung (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of salivary gland	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Disorder of neuronal migration and differentiation	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Failure of differentiation of bones of lower limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hemimelia of upper limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital polar cataract	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital anomaly of sclera	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital lamellar cataract	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital membranous cataract	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital fold of posterior segment of eye	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital displacement of punctum lacrimale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cervical spina bifida with hydrocephalus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Cervical spina bifida with hydrocephalus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Pulmonary hypertension in neurofibromatosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Merosin deficient congenital muscular dystrophy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Specified optic disc anomalies	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Perimembranous ventricular septal defect with extension to right ventricular inlet	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Ankyloblepharon	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital myopathy with uniform fiber type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Tilted optic disc	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of membranous labyrinth	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ectrodactyly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Duane syndrome with vertical deviation (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Cleft cartilaginous centrum of sacral vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital conjunctival cyst	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Triphalangeal thumb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ectrodactyly-ectodermal dysplasia-clefting syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Osteopetrosis - intermediate type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
De Lange syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Iniencephaly - open	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Iniencephaly - open	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital anomaly of musculoskeletal structure of trunk	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of the thymus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Webbed penis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Intermediate X-linked muscular dystrophy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Dimelia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cleft cartilaginous centrum of lumbar vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of blood vessel of limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital anomaly of anterior segment of eye (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of trunk	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital malformation of vitreous humour	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Early secondary malformation of the central nervous system	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Double auditory canal	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of endocrine testis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Persistent tunica vasculosa lentis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Incomplete ossification of ulna	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lack of ossification of premaxilla	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Cystic testicular dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital malposition of ischium	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Incomplete ossification of calcaneus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Bilateral unstable hip	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
splénomégalie syphilitique congénitale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Posterior embryotoxon (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Duplication of whole lower limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hydatid cyst of Morgagni - male	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
syndrome du nourrisson mou (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hologastroschisis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Short preputial frenulum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Café-au-lait macules with pulmonary stenosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Encephalocystocele (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital posterolateral diaphragmatic hernia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Atelencephaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Liver hyperplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Bipartite ossification of centrum of sacral vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital hyperplasia of sebaceous glands of lip	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Midline sinus of the upper lip	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Metatarsus adductus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Autosomal dominant muscular dystrophy not predominantly limb girdle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of testis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
amélie d'un membre supérieur	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital malformation of pancreas	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Lack of ossification of fibula	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital buried penis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
communication interventriculaire subartérielle, subaortique et subpulmonaire avec bord postéroinférieur musculaire	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of nervous system of head/neck	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Floating liver	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hemicentric thoracic centrum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of optic nerve	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of vomer	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of cerebrovascular system	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital heterochromia iridis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital vascular anomaly of eye	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Duane-radial ray syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
acro-céphalo-syndactylie de type V	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
dysplasie olfactogénitale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital undergrowth of lower limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of joint	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Axenfeld-Rieger syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Fukuyama congenital muscular dystrophy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Split foot	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Anterior embryotoxon	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital vertical talus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital anomaly of iris	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