A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).
Synonyms:
Diastrophic dwarfism
This is just here as a test because I lose it
Term information
database
cross reference
- ICD-11:LD24.03 (- E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD).)
- UMLS:C0220726 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q77.5 (- E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD).)
- OMIM:222600 (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=628
hasDbXref
- ICD-10:Q77.5
- OMIM:222600
- UMLS:C0220726
- ICD-11:LD24.03
has age of onset
- http://www.orpha.net/ORDO/Orphanet_409944
has birth prevalence range
- http://www.orpha.net/ORDO/Orphanet_409976
has inheritance
- http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence average value
- 1.2
- 3.03
has point prevalence range
- http://www.orpha.net/ORDO/Orphanet_409977
notation
- ORPHA:628
part of
- http://www.orpha.net/ORDO/Orphanet_93423
- http://www.orpha.net/ORDO/Orphanet_364536
present in
- http://www.orpha.net/ORDO/Orphanet_409984
- http://www.orpha.net/ORDO/Orphanet_410065
Term relations
Subclass of: