Cartilage-hair hypoplasia
http://www.orpha.net/ORDO/Orphanet_175
Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.
Synonyms: Autosomal recessive metaphyseal chondrodysplasia, Metaphyseal chondrodysplasia, McKusick type
Term info
database cross reference
- MedDRA:10069596 (E (exact mapping (the terms and the concepts are equivalent)))
- MeSH:C535916 (E (exact mapping (the terms and the concepts are equivalent)))
- OMIM:250250 (E (exact mapping (the terms and the concepts are equivalent)))
- UMLS:C0220748 (E (exact mapping (the terms and the concepts are equivalent)))
- ICD-10:Q78.8 (Attributed)
- ICD-10:Q78.8 (NTBT (narrower term maps to a broader term))
- OMIM:250460 (NTBT (narrower term maps to a broader term))
definition citation
orphanet
hasDbXref
MedDRA:10069596, UMLS:C0220748, MeSH:C535916, OMIM:250460, OMIM:250250, ICD-10:Q78.8
notation
ORPHA:175
Term relations
Subclass of:
- disease
- present_in some Worldwide and has_point_prevalence_range some Unknown_epidemiological_range
- part_of some Ectodermal dysplasia syndrome
- has_inheritance some autosomal recessive
- part_of some Syndromic genetic disorder with strabismus
- present_in some Finland and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 4.34
- part_of some Multiple metaphyseal dysplasia
- has_age_of_onset some infancy
- part_of some Immuno-osseous dysplasia
- present_in some Not defined and has_point_prevalence_range some >1 / 1000 and has_point_prevalence_average_value value 150.0
- part_of some Rare disorder with pigmented sclera
- has_age_of_onset some neonatal
- part_of some Syndromic disorder with strabismus