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
Ectopic testis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of bronchus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital obstruction of bile duct	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital constriction of pylorus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Bifid thumb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Acquired pulsion diverticulum of esophagus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Marginal insertion of umbilical cord	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital absence of all fingers	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital absence of prostate	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital absence of prostate	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Taurodontism	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital absence of ulna	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital absence of coronary artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital hip dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Longitudinal deficiency of femur	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Oral-facial-digital syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital anomaly of vagina	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital gastric perforation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Vascular compression of esophagus by aberrant artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Spina bifida with hydrocephalus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Brunner's gland adenoma	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Uterus subseptus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital hallux valgus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital pancreatic trypsin deficiency	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital cyst of canal of Nuck	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Dens in dente	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital pseudoarthrosis of tibia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Anomalous origin of left circumflex artery from right coronary artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of testis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of testis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Complete phocomelia of lower limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Encephalocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital duplication of biliary duct	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Abnormal placenta affecting management of mother	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital shortening of arm	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Ulegyria	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Overriding fingers	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital anomaly of brain	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Known OR suspected fetal anencephaly affecting obstetrical care	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Hepatic methionine adenosyltransferase deficiency	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital absence of tibia AND fibula	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Gingival odontogenic cyst	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Spinal cord dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Spina bifida aperta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Neonatal tooth	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital anomaly of female genital system	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital dislocation of knee	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Partial aphalangia of lower limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Longitudinal deficiency of radius AND ulna	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Manus plana	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital absence of penis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital absence of penis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital dislocation of one hip with subluxation of other	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Partial congenital absence of limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital anomaly of limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital anomaly of optic disc	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Twin placenta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of stomach	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Glycogen storage disease, hepatic form	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital ptosis of upper eyelid	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atresia of foramen of Luschka	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital deformity of knee joint	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Embryonic cyst of vagina	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Glycogenosis with glucoaminophosphaturia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Rachischisis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Longitudinal deficiency of radius	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital hourglass stomach	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Status marmoratus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Polydactyly of toes	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Arachnodactyly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital complete absence of limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital anomaly of vas deferens	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of vas deferens	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Persistent tunica vasculosa lentis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital rectovestibular fistula	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Larsen syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Ulnar dimelia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Apert's syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Dens evaginatus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type E	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Hemimelia of upper limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital chordee	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital chordee	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital chordee	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Placenta of multiple birth higher than twin	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Hyperextension deformity of knee	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital anomaly of vulva	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Imperforate hymen	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Cleidocranial dysostosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Miller syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Regional odontodysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Longitudinal deficiency of lower limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Hyperplasia of pancreatic islet beta cell	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital absence of toe	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital anomaly of upper limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital duplication of esophagus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital absence of patella	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier

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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