Cartilage Hair Hypoplasia

Preferred Label : Cartilage Hair Hypoplasia;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutation in the gene for RNAase RMRP. It is characterized by short-limb dwarfism, presence of fine sparse hair, and T-and B-cell immunodeficiency.;

Details

Origin ID

C61245;

UMLS CUI

C0220748;

Automatic exact mappings (from CISMeF team)
- Cartilage Hair hypoplasia [PASCAL descriptor]
Currated CISMeF NLP mapping
- Cartilage-hair hypoplasia [ORDO Disease]
- Cartilage-hair hypoplasia [MeSH concept]
- Cartilage-hair hypoplasia [ICD-11 More detail]
- Cartilage-hair hypoplasia [MedDRA Preferred Term]
- Cartilage-hair hypoplasia [OMIM Phenotype]
- Metaphyseal chondrodysplasia, McKusick type (disorder) [SNOMED CT concept]
- cartilage-hair hypoplasia [DO Concept]
- cartilage-hair hypoplasia [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia, mckusick type [SNOMED Notion]
DO Cross reference
- cartilage-hair hypoplasia [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cartilage-hair hypoplasia [MedDRA Preferred Term]
- Cartilage-hair hypoplasia [ORDO Disease]
- Cartilage-hair hypoplasia [OMIM Phenotype]
- Cartilage-hair hypoplasia [MeSH concept]
- Cartilage-hair hypoplasia [ICD-11 More detail]
- Metaphyseal chondrodysplasia, McKusick type (disorder) [SNOMED CT concept]
- cartilage-hair hypoplasia [MeSH Supplementary Concept]
- cartilage-hair hypoplasia [DO Concept]
- metaphyseal chondrodysplasia, mckusick type [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
- RMRP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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