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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
Correction of congenital deformity of forearm	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Excision of anlage of radius (procedure)	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Centralisation carpus correction for radial club hand	Direct morphology	False	dysgenese	Inferred relationship	Some	3
Excision of anlage of ulna	Direct morphology	False	dysgenese	Inferred relationship	Some	3
Reduction of gigantism of foot	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Centralization of carpus for correction of congenital deformity of forearm	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Revision release radius- correction for congenital deformity of forearm	Direct morphology	False	dysgenese	Inferred relationship	Some	3
Revision release ulna- correction for congenital deformity of forearm	Direct morphology	False	dysgenese	Inferred relationship	Some	3
Reconstruction of radial club hand (procedure)	Direct morphology	False	dysgenese	Inferred relationship	Some	3
Correction of congenital absence of radius	Direct morphology	False	dysgenese	Inferred relationship	Some	3
Placenta tripartita	Associated morphology	False	dysgenese	Inferred relationship	Some	2
vasa praevia, barn født	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Vasa praevia med prænatalt problem	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Morbidly adherent placenta (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dental midlines coincident and incorrect	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Microdysgenesis	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Morbidly adherent placenta in which the chorionic villi attach to the myometrium, rather than being restricted to the decidua basalis.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Twin placenta	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Præmatur abnorm placenta	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Twin dichorionic diamniotic placenta	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Velamentous insertion of umbilical cord	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Vasa previa	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Twin monochorionic monoamniotic placenta	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Twin monochorionic diamniotic placenta	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Blighted ovum	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Carneous mole	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Localized macrodontia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Fusion of crown of teeth	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Dilated odontoma (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Radicular dens invaginatus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Single tooth macrodontia (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive.	Associated morphology	False	dysgenese	Inferred relationship	Some	6
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Fusion of mandibular incisor teeth (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Developmental abnormality of cusp of tooth (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Posterior release of joints of foot for correction of congenital deformity of foot (procedure)	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Placenta circummarginate (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Placenta circummarginate (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Developmental anomaly of bilateral pleurae (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Developmental anomaly of bilateral pleurae (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of lobe of ear	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Relative generalised microdontia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Marginal insertion of umbilical cord	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dieulafoy vascular malformation of duodenum (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dieulafoy vascular malformation of stomach (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dieulafoy's vascular malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of patella (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Enamel spur	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Long axis of fetal heart deviated to left (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Long axis of fetal heart deviated to right (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Pendred's syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dieulafoy's vascular malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dieulafoy vascular malformation of duodenum (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dieulafoy vascular malformation of stomach (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of semicircular canal	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of vestibule of inner ear	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of biliary tract	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of internal auditory canal	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of cochlea	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Multiple congenital defects of vertebral segmentation	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Renal tubular dysgenesis due to twin to twin transfusion	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Renal tubular dysgenesis caused by drug	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Ovotestis (morphologic abnormality)	Is a	False	dysgenese	Inferred relationship	Some
Embryofetopathy caused by infection (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1

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Reference Sets

Concept inactivation indicator reference set

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US English

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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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)