Cartilage-hair hypoplasia

Preferred Label : Cartilage-hair hypoplasia;

ICD-11 definition : Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth and is associated with fine, slow growing hair, and primary immune deficiency.;

Details

Origin ID

469051294;

UMLS CUI

C0220748;

Currated CISMeF NLP mapping
- Cartilage Hair Hypoplasia [NCIt concept]
- Cartilage-hair hypoplasia [MedDRA Preferred Term]
- Cartilage-hair hypoplasia [MeSH concept]
- Cartilage-hair hypoplasia [ORDO Disease]
- 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]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cartilage Hair Hypoplasia [NCIt concept]
- Cartilage-hair hypoplasia [MedDRA Preferred Term]
- Cartilage-hair hypoplasia [OMIM Phenotype]
- Cartilage-hair hypoplasia [MeSH concept]
- Cartilage-hair hypoplasia [ORDO Disease]
- 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]

Keyword's position in hierarchy(ies) :

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