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
dysgenese	Is a	kongenit anomali	false	Inferred relationship	Some
dysgenese	Is a	Morphologically abnormal structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ectopic testis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of bronchus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital obstruction of bile duct	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital constriction of pylorus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Bifid thumb	Associated morphology	False	dysgenese	Inferred relationship	Some
Acquired pulsion diverticulum of esophagus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Marginal insertion of umbilical cord	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital absence of all fingers	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital absence of prostate	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital absence of prostate	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Taurodontism	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital absence of ulna	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital absence of coronary artery	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital hip dysplasia	Associated morphology	False	dysgenese	Inferred relationship	Some
Longitudinal deficiency of femur	Associated morphology	False	dysgenese	Inferred relationship	Some
Oral-facial-digital syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital anomaly of vagina	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital gastric perforation	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Vascular compression of esophagus by aberrant artery	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Spina bifida with hydrocephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Brunner's gland adenoma	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Uterus subseptus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital hallux valgus	Associated morphology	False	dysgenese	Inferred relationship	Some
The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital pancreatic trypsin deficiency	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital cyst of canal of Nuck	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dens in dente	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital pseudoarthrosis of tibia (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some
Anomalous origin of left circumflex artery from right coronary artery	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of testis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of testis	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	dysgenese	Inferred relationship	Some
Complete phocomelia of lower limb	Associated morphology	False	dysgenese	Inferred relationship	Some
Encephalocele	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital duplication of biliary duct	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Abnormal placenta affecting management of mother	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Kongenit forkortet af arm	Associated morphology	False	dysgenese	Inferred relationship	Some
Ulegyria	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Overriding fingers	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital anomaly of brain	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Kendt ELLER mistanke om føtal anencefali med indvirkning på obstetrisk behandling og pleje	Associated morphology	False	dysgenese	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Hepatic methionine adenosyltransferase deficiency	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital absence of tibia and fibula	Associated morphology	False	dysgenese	Inferred relationship	Some
Gingival odontogenic cyst	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Spinal cord dysplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Spina bifida aperta	Associated morphology	False	dysgenese	Inferred relationship	Some	6
A tooth which erupts after birth in the neonatal period.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital anomaly of female genital system	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital dislocation of knee	Associated morphology	False	dysgenese	Inferred relationship	Some
Partial aphalangia of lower limb	Associated morphology	False	dysgenese	Inferred relationship	Some
Longitudinal deficiency of radius AND ulna	Associated morphology	False	dysgenese	Inferred relationship	Some
Manus plana	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital absence of penis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital absence of penis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Kongenit luksation af én hofte med subluksation af den anden	Associated morphology	False	dysgenese	Inferred relationship	Some
Partial congenital absence of limb	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital anomaly of limb	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital anomaly of optic disc	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Twin placenta	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of stomach	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Glycogen storage disease, hepatic form	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Kongenit ptose i øvre øjenlåg	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atresia of foramen of Luschka	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital deformity of knee joint	Associated morphology	False	dysgenese	Inferred relationship	Some
Embryonic cyst of vagina (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Glycogenosis with glucoaminophosphaturia	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Longitudinal deficiency of radius	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital hourglass stomach	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Status marmoratus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Polydactyly of toes	Associated morphology	False	dysgenese	Inferred relationship	Some
Arachnodactyly	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital complete absence of limb	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital anomaly of vas deferens	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of vas deferens	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Persistent tunica vasculosa lentis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital rectovestibular fistula	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Larsen syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some
Ulnar dimelia	Associated morphology	False	dysgenese	Inferred relationship	Some
Aperts syndrom	Associated morphology	False	dysgenese	Inferred relationship	Some
Dens evaginatus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Brachydactyly syndrome type E	Associated morphology	False	dysgenese	Inferred relationship	Some
Hemimeli af overekstremitet	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital chordee (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital chordee (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital chordee (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Placenta of multiple birth higher than twin	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Hyperekstensionsdeformitet af knæ	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital anomaly of vulva	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Imperforate hymen	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cleidocranial dysostosis	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Miller syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some
Regional odontodysplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Longitudinal deficiency of lower limb	Associated morphology	False	dysgenese	Inferred relationship	Some
Hyperplasia of pancreatic islet beta cell	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital absence of toe	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital anomaly of upper limb	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital duplication of esophagus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital absence of patella	Associated morphology	False	dysgenese	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
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
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2614401000005117	dysgenese	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)