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398100001: Hereditary motor and sensory neuropathy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1766019012 Hereditary motor and sensory neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1777664015 Hereditary motor and sensory neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786097018 Hereditary sensory and motor neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786098011 Hereditary sensory-motor neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786099015 HSMN en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786100011 HMSN en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786101010 HMSN - Hereditary motor and sensory neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786102015 HSMN - Hereditary sensory and motor neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786103013 Hereditary sensorimotor neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3007425011 CMT - Charcot-Marie-Tooth disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1126891000052117 ärftlig motorisk och sensorisk neuropati sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


102 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary motor and sensory neuropathy (disorder) Is a Hereditary peripheral neuropathy true Inferred relationship Some
Hereditary motor and sensory neuropathy (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked hereditary motor and sensory neuropathy Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Déjérine-Sottas disease Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Hereditary sensory neuropathy Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Hereditary motor and sensory neuropathy with optic atrophy Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Hereditary motor and sensory neuropathy with retinitis pigmentosa Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
HSMN IV Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Charcot-Marie-Tooths sjukdom Is a False Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
ärftlig sensorisk och motorisk neuropati, typ V Is a False Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Peroneal muscular atrophy NOS Is a False Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Roussy-Lévys syndrom Is a False Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Andermann syndrome Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Family history of Charcot-Marie-Tooth disease (situation) Associated finding True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some 2
Charcot-Marie-Tooth disease, type II (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Charcot-Marie-Tooth disease, type I (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Charcot-Marie-Tooth disease type 4 (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Hereditary thermosensitive neuropathy (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Hereditary motor and sensory neuropathy Okinawa type (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Is a False Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Autosomal dominant slowed nerve conduction velocity Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Hereditary motor and sensory neuropathy type 5 (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Hereditary motor and sensory neuropathy with acrodystrophy Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Hereditary sensorimotor neuropathy with hyperelastic skin (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Roussy-Lévy syndrome Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Some

This concept is not in any reference sets

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