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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Only initial character case insensitive (core metadata concept) SNOMED CT core
3757279016 Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757280018 Atypical dentin dysplasia due to SMOC2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757281019 Dentin dysplasia type 1 with microdontia and shape anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Finding site Dentin structure true Inferred relationship Some 1
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Is a Dentin dysplasia true Inferred relationship Some
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Occurrence Congenital true Inferred relationship Some 1
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Is a Developmental hereditary disorder false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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