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

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Leucodystrophy\C11ORF73-related autosomal recessive hypomyelinating leucodystrophy

\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\...

\Leucodystrophy\C11ORF73-related autosomal recessive hypomyelinating leucodystrophy

\Hereditary degenerative disease of central nervous system\C11ORF73-related autosomal recessive hypomyelinating leucodystrophy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\C11ORF73-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\C11ORF73-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\C11ORF73-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\C11ORF73-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\C11ORF73-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Leucodystrophy\C11ORF73-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\C11ORF73-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\C11ORF73-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\C11ORF73-related autosomal recessive hypomyelinating leucodystrophy

Status: current, Primitive. 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 Case sensitive SNOMED CT core

4634526017 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy en Synonym Active Case sensitive SNOMED CT core

4634527014 C11ORF73-related autosomal recessive hypomyelinating leucoencephalopathy en Synonym Active Case sensitive SNOMED CT core

4634528016 C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy en Synonym Active Case sensitive SNOMED CT core

4634529012 C11ORF73-related autosomal recessive hypomyelinating leucodystrophy en Synonym Active Case sensitive SNOMED CT core

4636644018 Hypomyelinating leukodystrophy due to HIKESHI deficiency en Synonym Active Initial character case insensitive SNOMED CT core

4636645017 Hypomyelinating leucodystrophy due to HIKESHI deficiency en Synonym Active Initial character case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

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	Some
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy	Is a	Leucodystrophy	true	Inferred relationship	Some
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy	Finding site	Myelinated nerve fibre structure	true	Inferred relationship	Some	1
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy	Finding site	White matter structure of brain and spinal cord	true	Inferred relationship	Some	2
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4634525018	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4634526017	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
4634527014	C11ORF73-related autosomal recessive hypomyelinating leucoencephalopathy	en	Synonym	Active	Case sensitive	SNOMED CT core
4634528016	C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy	en	Synonym	Active	Case sensitive	SNOMED CT core
4634529012	C11ORF73-related autosomal recessive hypomyelinating leucodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
4636644018	Hypomyelinating leukodystrophy due to HIKESHI deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4636645017	Hypomyelinating leucodystrophy due to HIKESHI deficiency	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core