FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
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
3427051001000117 Dentindysplasie, atypische, durch SMOC2-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5758451000241115 dysplasie dentinaire atypique due à un déficit en protéine 2 de liaison au calcium modulaire liée à SPARC fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5758461000241117 dysplasie dentinaire atypique due à un déficit en SMOC2 (SPARC-related modular calcium-binding protein 2) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5758451000241115 dysplasie dentinaire atypique due à un déficit en protéine 2 de liaison au calcium modulaire liée à SPARC fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5758461000241117 dysplasie dentinaire atypique due à un déficit en SMOC2 (SPARC-related modular calcium-binding protein 2) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427051001000117 Dentindysplasie, atypische, durch SMOC2-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept) 1
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Is a Dentin dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

Back to Start