myopathy, congenital nonprogressive with moebius and robin sequences

Preferred Label : myopathy, congenital nonprogressive with moebius and robin sequences;

MeSH synonym : Congenital nonprogressive myopathy with Moebius and Robin sequence; Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence; Carey-Fineman-Ziter Syndrome; Carey Fineman Ziter syndrome; Moebius sequence, Robin complex, and hypotonia;

Details

Origin ID

C536102;

UMLS CUI

C1850746;

Automatic exact mappings (from CISMeF team)
- Carey-Fineman-Ziter syndrome [ICD-11 More detail]
CISMeF manual mappings
- Carey-Fineman-Ziter syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Carey-Fineman-Ziter syndrome [DO Concept]
- Carey-fineman-ziter syndrome 1 [OMIM Phenotype]
- Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- mobius syndrome [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
- pierre robin syndrome [MeSH Descriptor]
Record concept(s)
- Myopathy, congenital nonprogressive with Moebius and Robin sequences [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carey-Fineman-Ziter syndrome [ORDO Disease]
- Carey-Fineman-Ziter syndrome [DO Concept]
- Carey-fineman-ziter syndrome 1 [OMIM Phenotype]
- Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) [SNOMED CT concept]

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