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
Congenital emphysema	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Calcaneonavicular bar	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital ectropion of lip	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malformation of sternum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Distal muscular dystrophy	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital thoracostenosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Duplication of lower limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Arteriohepatic dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Lack of ossification of humerus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of premaxilla	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of nasal turbinate	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of thoracic cage	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of the peripheral nervous system	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital omphalocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Lack of ossification of tympanic anulus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital keratoconus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Cervical spina bifida without hydrocephalus - open	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Cervical spina bifida without hydrocephalus - open	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital cyst of mediastinum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Cortical dysplasia with hemimegalencephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital malposition of rib	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital stricture of osseous meatus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Lumbar spina bifida without hydrocephalus - open	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Lumbar spina bifida without hydrocephalus - open	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Autosomal dominant muscular dystrophy with gene located at 5q31	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital anomaly of calcaneus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital absence of forearm with hand AND fingers	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Ecchordosis physaliphora	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Coloboma of eyelid	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of inner ear	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Phocomelia of upper limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Acephalorhachia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Neural tube defect	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Hydrorhachis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital undergrowth of foot	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Muscular ventricular septum defect	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Swan's syndrome II	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital forefoot varus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Distal interphalangeal joint symphalangism	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Perimembranous ventricular septal defect with extension to right ventricular trabecular component	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital cyst of iris	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Spina bifida with hydrocephalus of late onset	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Spina bifida with hydrocephalus of late onset	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Angelman syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Dumbbell ossification of centrum of cervical vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Imperforate lacrimal punctum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malformation of the respiratory system	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malposition of talus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Perimembranous ventricular septal defect with extension to right ventricular outlet	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital muscular dystrophy	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Megalocornea	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of peritoneum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital liver grooves	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Ectopic liver	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital phimosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Distal muscular dystrophy with adult onset	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital abnormality of pulmonary trunk	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of ischium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Omphalocele - irreducible	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Congenital subluxation of carpus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital amputation of upper limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Hemimegalencephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Rachischisis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Rachischisis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Congenital anomaly of vulva	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital instability of hip joint	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital claw foot	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Dumbbell ossification of centrum of thoracic vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Dumbbell ossification of centrum of thoracic vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Patent ductus arteriosus - delayed closure	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Overgrowth of whole upper limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital blepharophimosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Incomplete ossification of carpal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital posterior polar cataract	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Olivary heterotopia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital anomaly of organ of Corti	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Patent ductus arteriosus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital abnormality of Eustachian tube	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of carpal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Branchial cleft internal sinus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Transverse arrest metacarpal first ray	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Nasal encephalocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Cleidocranial dysostosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	7
Congenital cysts of the posterior segment	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital cleft hand	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Bipartite ossification of centrum of lumbar vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital chordee	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital anomaly of epididymis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital anomaly of middle ear	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of neural structure of trunk	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of cornea	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malposition of thoracic vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of muscle AND/OR tendon	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Omphalocele with gangrene	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Undescended testicle	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Incomplete ossification of supraoccipital bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Developmental ovarian cyst	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