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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3425178011 Steroid dehydrogenase deficiency and dental anomaly syndrome en Synonym Active Case insensitive SNOMED CT core
3425179015 Lyngstadaas syndrome en Synonym Active Case sensitive SNOMED CT core
3425180017 An autosomal recessive liver disease, which was associated with numerical dental aberrations in a consanguineous Arabia Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease. en Definition Active Case sensitive SNOMED CT core
3425181018 An autosomal recessive liver disease, which was associated with numerical dental aberrations in a consanguineous Arabia Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralization and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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