Micro syndrome

Preferred Label : Micro syndrome;

ICD-11 definition : Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.;

ICD-11 synonym : Warburg Micro syndrome; WARBM1 - [Warburg Micro syndrome];

ICD-11 acronym : WARBM1;

Details

Origin ID

1843090232;

Automatic exact mappings (from CISMeF team)
- Warburg micro syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Micro syndrome [ORDO Disease]
- Warburg Sjo Fledelius syndrome [MeSH concept]
- Warburg micro syndrome [DO Concept]
- Warburg micro syndrome (disorder) [SNOMED CT concept]
- micro syndrome [Disease (Nov.)]
- warburg sjo fledelius syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- RAB3 GTPase activating protein catalytic subunit 1 [ORDO Gene]
Validated automatic mappings to BTNT
- Warburg micro syndrome 1 [OMIM Phenotype]
- Warburg micro syndrome 1 [DO Concept]

Keyword's position in hierarchy(ies) :

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