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723583009: Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3425177018 Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425178011 Steroid dehydrogenase deficiency and dental anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425179015 Lyngstadaas syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403124015 A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403125019 A rare metabolic liver disease characterised by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralisation and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a Metabolic and genetic disorder affecting the liver true Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a Congenital anomaly in number of teeth (disorder) true Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Associated morphology Congenital abnormal number false Inferred relationship Some 2
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 2
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Finding site Liver structure false Inferred relationship Some 3
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Finding site Liver structure true Inferred relationship Some 1
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Associated morphology Abnormal number (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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