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1172595004: C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4634525018 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634526017 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634527014 C11ORF73-related autosomal recessive hypomyelinating leucoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634528016 C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634529012 C11ORF73-related autosomal recessive hypomyelinating leucodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4636644018 Hypomyelinating leukodystrophy due to HIKESHI deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4636645017 Hypomyelinating leucodystrophy due to HIKESHI deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4634532010 A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634533017 A rare leucodystrophy characterised by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634525018 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634526017 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634527014 C11ORF73-related autosomal recessive hypomyelinating leucoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634528016 C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634529012 C11ORF73-related autosomal recessive hypomyelinating leucodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4636644018 Hypomyelinating leukodystrophy due to HIKESHI deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4636645017 Hypomyelinating leucodystrophy due to HIKESHI deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4634532010 A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634533017 A rare leucodystrophy characterised by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3427061001000115 Hypomyelinisierende Leukodystrophie, autosomal-rezessive, C11ORF73-assoziierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5760001000241119 leucodystrophie hypomyélinisante autosomique récessive associée à C11ORF73 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5760011000241117 leucodystrophie hypomyélinisante par déficit en hikeshi fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5760001000241119 leucodystrophie hypomyélinisante autosomique récessive associée à C11ORF73 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5760011000241117 leucodystrophie hypomyélinisante par déficit en hikeshi fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427061001000115 Hypomyelinisierende Leukodystrophie, autosomal-rezessive, C11ORF73-assoziierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy Is a Leucodystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy Finding site Myelinated nerve fiber structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy Associated morphology Myelin sheath alteration true Inferred relationship Existential restriction modifier (core metadata concept) 1
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy Finding site White matter structure of brain and spinal cord (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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