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783059004: Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757278012 Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3757279016 Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency en Synonym Active Initial character case insensitive SNOMED CT core
3757280018 Atypical dentin dysplasia due to SMOC2 deficiency en Synonym Active Initial character case insensitive SNOMED CT core
3757281019 Dentin dysplasia type 1 with microdontia and shape anomalies en Synonym Active Case insensitive SNOMED CT core
3757282014 A rare genetic dentin dysplasia disease with characteristics of extreme microdontia, oligodontia and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp) enamel hypoplasia and anterior open bite may also be associated. Caused by homozygous mutation in the SMOC2 gene on chromosome 6q27. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Atypical dentin dysplasia due to SMOC2 deficiency Finding site Dentin structure true Inferred relationship Some 1
Atypical dentin dysplasia due to SMOC2 deficiency Is a Digestive system hereditary disorder false Inferred relationship Some
Atypical dentin dysplasia due to SMOC2 deficiency Associated morphology Dysplasia true Inferred relationship Some 1
Atypical dentin dysplasia due to SMOC2 deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Atypical dentin dysplasia due to SMOC2 deficiency Pathological process Pathological developmental process true Inferred relationship Some 1
Atypical dentin dysplasia due to SMOC2 deficiency Is a Dentin dysplasia true Inferred relationship Some
Atypical dentin dysplasia due to SMOC2 deficiency Occurrence Congenital true Inferred relationship Some 1
Atypical dentin dysplasia due to SMOC2 deficiency Is a Developmental hereditary disorder false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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