craniofacial deafness hand syndrome

Preferred Label : craniofacial deafness hand syndrome;

MeSH note : Features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss;

CISMeF synonym : features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss;

CISMeF acronym : CDHS;

MeSH synonym : Craniofacial-Deafness-Hand syndrome;

Détails

Origin ID

C536453;

UMLS CUI

C1852510;

Automatic exact mappings (from CISMeF team)
- Craniofacial-deafness-hand syndrome [ICD-11 More detail]
- PAX3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Craniofacial deafness hand syndrome (disorder) [SNOMED CT concept]
- Craniofacial-deafness-hand syndrome [OMIM Phenotype]
- Craniofacial-deafness-hand syndrome [ORDO Disease]
- craniofacial-deafness-hand syndrome [DO Concept]
DO Cross reference
- craniofacial-deafness-hand syndrome [DO Concept]
False automatic mappings
- Congenital diaphragmatic hernia [ORDO Disease]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
ORDO relation(s)
- Craniofacial-deafness-hand syndrome [ORDO Disease]
Record concept(s)
- Craniofacial deafness hand syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniofacial deafness hand syndrome (disorder) [SNOMED CT concept]
- Craniofacial-deafness-hand syndrome [ORDO Disease]
- Craniofacial-deafness-hand syndrome [OMIM Phenotype]
- craniofacial-deafness-hand syndrome [DO Concept]

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