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1187249005: VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Nov 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
4672922017 VPS11-related autosomal recessive hypomyelinating leukodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module
4672926019 VPS11-related autosomal recessive hypomyelinating leucodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module
4672927011 VPS11-related autosomal recessive hypomyelinating leukoencephalopathy en Synonym Active Entire term case sensitive SNOMED CT core module
4672928018 VPS11-related autosomal recessive hypomyelinating leucoencephalopathy en Synonym Active Entire term case sensitive SNOMED CT core module
4673232012 VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
4673233019 VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leucodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module
4673234013 VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Is a Intellectual disability true Inferred relationship Existential restriction modifier
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Is a Leukodystrophy true Inferred relationship Existential restriction modifier
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Is a Global developmental delay true Inferred relationship Existential restriction modifier
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Finding site Myelinated nerve fiber structure true Inferred relationship Existential restriction modifier 1
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Associated morphology Myelin sheath alteration true Inferred relationship Existential restriction modifier 1
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Finding site White matter structure of brain and spinal cord true Inferred relationship Existential restriction modifier 2
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier 2
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Interprets Intellectual ability true Inferred relationship Existential restriction modifier 4
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Has interpretation Impaired true Inferred relationship Existential restriction modifier 4
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 5
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Has interpretation Impaired true Inferred relationship Existential restriction modifier 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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