Donnai-Barrow syndrome

Preferred Label : Donnai-Barrow syndrome;

CISMeF synonym : DBS/FOAR syndrome;

MeSH synonym : faciooculoacousticorenal syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness; diaphragmatic hernia-exomphalos-hypertelorism syndrome; Facio-Oculo-Acoustico-Renal syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; donnai barrow syndrome; Foar Syndrome; Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis; DBS-FOAR Syndrome;

Details

Origin ID

C536390;

UMLS CUI

C1857277;

Automatic exact mappings (from CISMeF team)
- Holmes-Schepens syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder) [SNOMED CT concept]
- Donnai Barrow syndrome [Disease (Nov.)]
- Donnai-Barrow syndrome [DO Concept]
- Donnai-Barrow syndrome [ORDO Disease]
- Donnai-barrow syndrome [OMIM Phenotype]
DO Cross reference
- Donnai-Barrow syndrome [DO Concept]
Has phenotype(s) (HPO)
- Flattened nasal bridge [HPO term]
- Prominent eyes [HPO term]
- Underorbital skin creases [HPO term]
MeSH term(s) associated for indexing
- Hernias, Diaphragmatic, Congenital [MeSH Descriptor]
- agenesis of corpus callosum [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- myopia [MeSH Descriptor]
- proteinuria [MeSH Descriptor]
- renal tubular transport, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Donnai-Barrow syndrome [ORDO Disease]
Record concept(s)
- Donnai-Barrow syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder) [SNOMED CT concept]
- Donnai Barrow syndrome [Disease (Nov.)]
- Donnai-Barrow syndrome [ORDO Disease]
- Donnai-Barrow syndrome [DO Concept]
- Donnai-barrow syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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