Type II Achondrogenesis

Preferred Label : Type II Achondrogenesis;

NCIt synonyms : Langer-Saldino Achondrogenesis; Achondrogenesis, Type II; Hypochondrogenesis;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is the most severe of a spectrum of disorders caused by mutations in the COL2A1 gene, characterized by short limbs, small chest and lungs, and abnormal ossification of the spine and pelvis. Often, infants die at birth or shortly thereafter.;

Details

Origin ID

C3816;

UMLS CUI

C0220685;

Automatic exact mappings (from CISMeF team)
- Achondrogenesis [ICD-10 Sub-category]
- Hypochondrogenesis [ORDO Disease]
- Hypochondrogenesis (disorder) [SNOMED CT concept]
- hypochondrogenesis [MeSH Supplementary Concept]
- hypochondrogenesis [DO Concept]
- hypochondrogenesis [MeSH concept]
Currated CISMeF NLP mapping
- Achondrogenesis type 2 [MeSH concept]
- Achondrogenesis type 2 [ORDO Disease]
- Achondrogenesis type 2 [ICD-11 More detail]
- Achondrogenesis, type II [OMIM Phenotype]
- Achondrogenesis, type II (disorder) [SNOMED CT concept]
- Achondrogenesis, type II (disorder) [Inactive SNOMED CT concept]
- achondrogenesis type 2 [MeSH Supplementary Concept]
- achondrogenesis type II [DO Concept]
- achondrogenesis, type ii [SNOMED Notion]
See also inter- (CISMeF)
- Acromesomelic dysplasia 2a [OMIM Phenotype]
- Hypochondrogenesis [ICD-11 Sub-sub category]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Achondrogenesis type 2 [ORDO Disease]
- Achondrogenesis type 2 [MeSH concept]
- Achondrogenesis type 2 [ICD-11 More detail]
- Achondrogenesis, type II [OMIM Phenotype]
- Achondrogenesis, type II (disorder) [SNOMED CT concept]
- achondrogenesis type 2 [MeSH Supplementary Concept]
- achondrogenesis type II [DO Concept]
- achondrogenesis, type ii [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- COL2A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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