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
- MeSH:C535916 (E (Exact mapping: the two concepts are equivalent))
- OMIM:250250 (E (Exact mapping: the two concepts are equivalent))
- OMIM:250460 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- ICD-10:Q78.8 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet).)
- UMLS:C0220748 (E (Exact mapping: the two concepts are equivalent))
- MedDRA:10069596 (E (Exact mapping: the two concepts are equivalent))
definition citation
- Orphanet
expertlink
- https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175
hasDbXref
- OMIM:250250
- MedDRA:10069596
- UMLS:C0220748
- OMIM:250460
- MeSH:C535916
- ICD-10:Q78.8
has age of onset
- http://www.orpha.net/ORDO/Orphanet_409944
- http://www.orpha.net/ORDO/Orphanet_409945
has birth prevalence range
- http://www.orpha.net/ORDO/Orphanet_409977
has inheritance
- http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
- http://www.orpha.net/ORDO/Orphanet_409981
- http://www.orpha.net/ORDO/Orphanet_409980
notation
- ORPHA:175
part of
- http://www.orpha.net/ORDO/Orphanet_522520
- http://www.orpha.net/ORDO/Orphanet_519296
- http://www.orpha.net/ORDO/Orphanet_93430
- http://www.orpha.net/ORDO/Orphanet_169349
- http://www.orpha.net/ORDO/Orphanet_98683
- http://www.orpha.net/ORDO/Orphanet_79373
present in
- http://www.orpha.net/ORDO/Orphanet_409992
- http://www.orpha.net/ORDO/Orphanet_409991
- http://www.orpha.net/ORDO/Orphanet_410065
Term relations
Subclass of: