A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
This is just here as a test because I lose it
Term information
database
cross reference
- ICD-10:Q87.8 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet).)
- UMLS:C0265223 (E (Exact mapping: the two concepts are equivalent))
- MeSH:C536438 (E (Exact mapping: the two concepts are equivalent))
- MedDRA:10049066 (E (Exact mapping: the two concepts are equivalent))
- OMIM:216550 (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=193
hasDbXref
- UMLS:C0265223
- ICD-10:Q87.8
- MeSH:C536438
- MedDRA:10049066
- OMIM:216550
has age of onset
- http://www.orpha.net/ORDO/Orphanet_409943
- http://www.orpha.net/ORDO/Orphanet_409944
- http://www.orpha.net/ORDO/Orphanet_409945
has cases/families value
- 200.0
has inheritance
- http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
- http://www.orpha.net/ORDO/Orphanet_409981
notation
- ORPHA:193
part of
- http://www.orpha.net/ORDO/Orphanet_611327
- http://www.orpha.net/ORDO/Orphanet_240371
- http://www.orpha.net/ORDO/Orphanet_98661
- http://www.orpha.net/ORDO/Orphanet_102283
- http://www.orpha.net/ORDO/Orphanet_331184
present in
- http://www.orpha.net/ORDO/Orphanet_409991
Term relations
Subclass of: