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

719837003: X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3318109015 X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318110013 X-linked dominant chondrodysplasia Chassaing Lacombe type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402251018 X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402252013 X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterised by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318109015 X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318110013 X-linked dominant chondrodysplasia Chassaing Lacombe type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318111012 A rare genetic bone disorder with characteristics of chondrodysplasia, intrauterine growth retardation, hydrocephaly and facial dysmorphism in the affected males. The disease is severe and probably lethal in males, the clinical picture in females is less severe. The disease is due to a mutation in the histone deacetylase 6 HDAC6 gene (Xp11.3-q13.1) that causes a nucleotide substitution in the 3' untranslated region (UTR) of the HDAC6 transcript. This mutation lies in the seed sequence of microRNA-433 (hsa-miR-433) and abolishes the post-transcriptional regulation of HDAC6 expression by hsa-miR-433, resulting in the overexpression of the HDAC6 protein. Inheritance is X-linked dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402251018 X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402252013 X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterised by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3393951001000110 Chondrodysplasie, X-chromosomal-dominante, Typ Chassaing-Lacombe de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
940891000172113 syndrome de chondrodysplasie dominante lié à l'X, hydrocéphalie, microphtalmie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1007421000172112 chondrodysplasie dominante liée à l'X type Chassaing-Lacombe fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
940891000172113 syndrome de chondrodysplasie dominante lié à l'X, hydrocéphalie, microphtalmie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1007421000172112 chondrodysplasie dominante liée à l'X type Chassaing-Lacombe fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393951001000110 Chondrodysplasie, X-chromosomal-dominante, Typ Chassaing-Lacombe 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
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Is a Chondrodysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Is a X-linked dominant hereditary disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start