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765325002: Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3657911019 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657912014 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657913016 Neurologic Waardenburg Shah syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657914010 PCWH - peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404523010 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404524016 Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657911019 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657912014 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657913016 Neurologic Waardenburg Shah syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657914010 PCWH - peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3664249018 Rare syndrome with the association of the features of Waardenburg Shah and neurological features namely neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy. Autonomic dysfunction (reduced saliva production, sweating and tearing, and bradycardia and arrhythmia) may also be present. Delayed white matter myelination is present on brain MRI, and may also be responsible for neuropathy at the peripheral level. Hirschsprung disease is sometimes absent. Most of the cases are caused by mutations involving the SOX10 gene (22q13.1): either a large deletion or point mutation located in the last two exons. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404523010 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404524016 Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3444831001000114 Periphere demyelinisierende Neuropathie-zentrale demyelinisierende Leukodystrophie-Waardenburg-Syndrom-Hirschsprung Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
896081000172117 PCWH - peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
973191000172114 syndrome de neuropathie périphérique-leucodystrophie centrale dysmyélinisante-syndrome de Waardenburg-maladie de Hirschsprung fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
896081000172117 PCWH - peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
973191000172114 syndrome de neuropathie périphérique-leucodystrophie centrale dysmyélinisante-syndrome de Waardenburg-maladie de Hirschsprung fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3444831001000114 Periphere demyelinisierende Neuropathie-zentrale demyelinisierende Leukodystrophie-Waardenburg-Syndrom-Hirschsprung Krankheit 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
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early greying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a Peripheral demyelinating neuropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a Leucodystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Associated morphology Myelin sheath alteration true Inferred relationship Existential restriction modifier (core metadata concept) 2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Finding site Peripheral nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Associated morphology Demyelination true Inferred relationship Existential restriction modifier (core metadata concept) 1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 4
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Finding site White matter structure of brain and spinal cord (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Finding site Myelinated nerve fiber structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a Congenital anomaly of peripheral nerve true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Associated morphology Hypopigmentation true Inferred relationship Existential restriction modifier (core metadata concept) 5
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a Congenital degeneration of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Interprets Hearing false Inferred relationship Existential restriction modifier (core metadata concept) 6
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 4
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 4
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 8
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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