OMOP Concept 1075488
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1-4 mutation
StandardConditionSNOMED1304277005Disorder
Maps from
0
Descendants
0
Valid from
1 Apr 2024
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1-4 mutation across source vocabularies.
- Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation
- Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder)
- H1-4-related neurodevelopmental disorder
- Rahman syndrome
- síndrome de discapacidad intelectual, dismorfia craneofacial, macrocefalia, hipotonía autosómico dominante por mutación en el gen H1-4
- síndrome de discapacidad intelectual, dismorfia craneofacial, macrocefalia, hipotonía autosómico dominante por mutación en el gen H1-4 (trastorno)
- síndrome de Rahman
- trastorno del neurodesarrollo asociado al gen H1-4
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(19)Roll up to these when you need a wider cohort.
- 1Genetic disease
- 1Intellectual disability
- 1Multiple malformation syndrome with early overgrowth
- 2Behavior finding
- 2Disease
- 2Impaired cognition
- 2Intellectual ability - finding
- 2Multiple system malformation syndrome
- 2Neurodevelopmental disorder
- 3Clinical finding
- 3Cognitive function finding
- 3Congenital malformation syndrome
- 3Developmental disorder
- 3Intelligence finding
- 3Mental state, behavior and/or psychosocial function finding
- 4Congenital malformation
- 4Functional finding
- 5Congenital disease
- 6Disorder of fetus and/or newborn
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