Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.
Synonyms: Autosomal recessive metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, McKusick type
This is just here as a test because I lose it
Term information
database cross reference
- UMLS:C0220748 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q78.8 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- MeSH:C535916 (E (Exact mapping: the two concepts are equivalent))
- MedDRA:10069596 (E (Exact mapping: the two concepts are equivalent))
- OMIM:250250 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q78.8 (Attributed (The ICD10 code is attributed by Orphanet))
- OMIM:250460 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
Term relations
Subclass of:
- disease
- present_in some Worldwide and has_point_prevalence_range some Unknown_epidemiological_range
- present_in some Specific population and has_point_prevalence_range some >1 / 1000 and has_point_prevalence_average_value value 150.0
- 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
- part_of some Rare disorder with pigmented sclera
- has_age_of_onset some neonatal
- part_of some Syndromic disorder with strabismus