21390004: Developmental anomaly (morphologic abnormality)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental anomaly	Is a	Congenital anomaly	false	Inferred relationship	Existential restriction modifier
Developmental anomaly	Is a	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Iniencephaly - closed	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Iniencephaly - closed	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Pure gonadal dysgenesis 46,XX	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital honeycomb lung	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of salivary gland	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Disorder of neuronal migration and differentiation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Failure of differentiation of bones of lower limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Hemimelia of upper limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital polar cataract	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of sclera	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital lamellar cataract	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital membranous cataract	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital fold of posterior segment of eye	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital displacement of punctum lacrimale	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Cervical spina bifida with hydrocephalus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Cervical spina bifida with hydrocephalus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Pulmonary hypertension in neurofibromatosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Merosin deficient congenital muscular dystrophy	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Specified optic disc anomalies	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Perimembranous ventricular septal defect with extension to right ventricular inlet	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Ankyloblepharon	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital myopathy with uniform fiber type	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Tilted optic disc	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of membranous labyrinth	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Ectrodactyly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Duane syndrome with vertical deviation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Cleft cartilaginous centrum of sacral vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital cyst of conjunctiva	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Triphalangeal thumb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Osteopetrosis - intermediate type	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
De Lange syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Iniencephaly - open	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Iniencephaly - open	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital anomaly of musculoskeletal structure of trunk	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of the thymus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Webbed penis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Intermediate X-linked muscular dystrophy	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Dimelia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Cleft cartilaginous centrum of lumbar vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of blood vessel of limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of anterior segment of eye	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of trunk	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malformation of vitreous humor	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Early secondary malformation of the central nervous system	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Double auditory canal	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of endocrine testis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Persistent tunica vasculosa lentis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Incomplete ossification of ulna	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Lack of ossification of premaxilla	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Cystic testicular dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital malposition of ischium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Incomplete ossification of calcaneus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Bilateral unstable hip	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital syphilitic splenomegaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Posterior embryotoxon	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Duplication of whole lower limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Hydatid cyst of Morgagni - male	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Floppy infant syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Hologastroschisis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Short preputial frenulum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Café-au-lait macules with pulmonary stenosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Encephalocystocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Spina bifida without hydrocephalus - closed	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Spina bifida without hydrocephalus - closed	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital posterolateral diaphragmatic hernia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Atelencephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Liver hyperplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Bipartite ossification of centrum of sacral vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital hyperplasia of sebaceous glands of lip	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Midline sinus of the upper lip	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Metatarsus adductus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Autosomal dominant muscular dystrophy not predominantly limb girdle	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital anomaly of testis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Transverse deficiency of arm, shoulder level	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malformation of pancreas	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Lack of ossification of fibula	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital buried penis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Doubly committed subarterial ventricular septal defect with muscular posterior inferior rim	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital anomaly of nervous system of head/neck	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Floating liver	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Hemicentric thoracic centrum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of optic nerve	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of vomer	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of cerebrovascular system	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital heterochromia iridis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital vascular anomaly of eye	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Duane-radial ray syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type V	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Hypogonadism with anosmia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital undergrowth of lower limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of joint	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Axenfeld-Rieger syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Fukuyama congenital muscular dystrophy	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Split foot	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Anterior embryotoxon	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital vertical talus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Congenital anomaly of iris	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Cleft hand - first cleft	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital malformation of eye, ear and neck	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malformation of eye, ear and neck	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3

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Id	Description	Lang	Type	Status	Case?	Module
183282017	Developmental anomaly	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190336012	Developmental malformation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190337015	Developmental defect	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190338013	Dysgenesis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190339017	Anomalous formation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190340015	Abnormal development	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190341016	Malformation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1208681014	Developmental abnormality	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module