cartilage-hair hypoplasia

Preferred Label : cartilage-hair hypoplasia;

MeSH synonym : metaphyseal chondrodysplasia, McKusick type; McKusick metaphyseal chondrodysplasia syndrome; cartilage hair syndrome; metaphyseal chondrodysplasia, recessive type;

Details

Origin ID

C535916;

UMLS CUI

C0220748;

Currated CISMeF NLP mapping
- Cartilage Hair Hypoplasia [NCIt concept]
- Cartilage-hair hypoplasia [ICD-11 More detail]
- Cartilage-hair hypoplasia [MedDRA Preferred Term]
- Cartilage-hair hypoplasia [OMIM Phenotype]
- Cartilage-hair hypoplasia [ORDO Disease]
- Metaphyseal chondrodysplasia, McKusick type (disorder) [SNOMED CT concept]
- cartilage-hair hypoplasia [DO Concept]
- metaphyseal chondrodysplasia, mckusick type [SNOMED Notion]
DO Cross reference
- cartilage-hair hypoplasia [DO Concept]
MeSH term(s) associated for indexing
- Primary Immunodeficiency Diseases [MeSH Descriptor]
- hair [MeSH Descriptor]
- hirschsprung disease [MeSH Descriptor]
- immunologic deficiency syndromes [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Cartilage-hair hypoplasia [ORDO Disease]
Record concept(s)
- Cartilage-hair hypoplasia [MeSH concept]
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 [ORDO Disease]
- Cartilage-hair hypoplasia [OMIM Phenotype]
- Cartilage-hair hypoplasia [ICD-11 More detail]
- Metaphyseal chondrodysplasia, McKusick type (disorder) [SNOMED CT concept]
- cartilage-hair hypoplasia [DO Concept]
- metaphyseal chondrodysplasia, mckusick type [SNOMED Notion]

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