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1217379007: NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Apr 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5036068014 NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
5036069018 NK6 homeobox 2-related autosomal recessive hypomyelinating leucodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module
5036070017 NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module
5036071018 NKX6-2-related autosomal recessive hypomyelinating leucodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module
5036072013 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module
5036073015 Autosomal recessive hypomyelinating leukodystrophy, progressive spastic ataxia en Synonym Active Entire term case insensitive SNOMED CT core module
5036074014 SPAX8 - spastic ataxia 8 en Synonym Active Entire term case sensitive SNOMED CT core module
5036075010 Autosomal recessive hypomyelinating leucodystrophy, progressive spastic ataxia en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a Decreased hearing true Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a Intellectual disability true Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a Chronic nervous system disorder true Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a Chronic mental disorder false Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a Leukodystrophy true Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a Spastic tetraplegia true Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a Hereditary disorder of the visual system true Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a Hereditary ataxia true Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Clinical course Progressive true Inferred relationship Existential restriction modifier 4
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Finding site Structure of visual system true Inferred relationship Existential restriction modifier 5
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Finding site Limb structure true Inferred relationship Existential restriction modifier 6
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Finding site Structure of auditory system true Inferred relationship Existential restriction modifier 7
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 8
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Interprets Hearing, function true Inferred relationship Existential restriction modifier 3
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Has interpretation Decreased true Inferred relationship Existential restriction modifier 3
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Finding site Myelinated nerve fiber structure true Inferred relationship Existential restriction modifier 1
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Associated morphology Myelin sheath alteration true Inferred relationship Existential restriction modifier 1
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Finding site White matter structure of brain and spinal cord true Inferred relationship Existential restriction modifier 2
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier 2
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 9
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Has interpretation Impaired true Inferred relationship Existential restriction modifier 9
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Interprets Intellectual ability true Inferred relationship Existential restriction modifier 10
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Has interpretation Impaired true Inferred relationship Existential restriction modifier 10
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Has interpretation Absent true Inferred relationship Existential restriction modifier 11
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Interprets Movement true Inferred relationship Existential restriction modifier 12
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Interprets Movement observable true Inferred relationship Existential restriction modifier 11

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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