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723583009: syndrome de déficit en stéroïde déshydrogénase-anomalies dentaires (trouble)


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
759791000241110 syndrome de déficit en stéroïde déshydrogénase-anomalies dentaires (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
892411000172115 syndrome de déficit en stéroïde déshydrogénase-anomalies dentaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
940001000172111 syndrome de Lyngstadaas fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Entire term case sensitive (core metadata concept) 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 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) survenue (attribut) congénital 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) localisation d'une constatation (attribut) foie 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) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) est un(e) (attribut) troubles métaboliques et génétiques affectant le foie true Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) est un(e) (attribut) Congenital anomaly in number of teeth (disorder) true Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) morphologie associée (attribut) Congenital abnormal number true Inferred relationship Some 2
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 2
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) localisation d'une constatation (attribut) foie false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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