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724091002: Neuroectodermal melanolysosomal disease (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3430547010 Neuroectodermal melanolysosomal disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430548017 Neuroectodermal melanolysosomal disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430549013 Elejalde disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403219012 A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403220018 A rare genetic neurological disease characterised by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neuroectodermal melanolysosomal disease (disorder) Is a Hyperpigmentation of skin true Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) Is a Neurocutaneous syndrome true Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) Is a Congenital pigmentary skin anomalies true Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) Occurrence Congenital true Inferred relationship Some 2
Neuroectodermal melanolysosomal disease (disorder) Occurrence Congenital true Inferred relationship Some 3
Neuroectodermal melanolysosomal disease (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 2
Neuroectodermal melanolysosomal disease (disorder) Finding site Structure of nervous system (body structure) true Inferred relationship Some 2
Neuroectodermal melanolysosomal disease (disorder) Associated morphology Congenital hyperpigmentation false Inferred relationship Some 3
Neuroectodermal melanolysosomal disease (disorder) Finding site Skin structure false Inferred relationship Some 3
Neuroectodermal melanolysosomal disease (disorder) Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) Occurrence Congenital true Inferred relationship Some 1
Neuroectodermal melanolysosomal disease (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Neuroectodermal melanolysosomal disease (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Neuroectodermal melanolysosomal disease (disorder) Finding site Skin structure true Inferred relationship Some 1
Neuroectodermal melanolysosomal disease (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Neuroectodermal melanolysosomal disease (disorder) Associated morphology Hyperpigmentation true Inferred relationship Some 1
Neuroectodermal melanolysosomal disease (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) Is a Congenital anomaly of nervous system true Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) Finding site Structure of nervous system (body structure) true Inferred relationship Some 3
Neuroectodermal melanolysosomal disease (disorder) Associated morphology Neoplasm true Inferred relationship Some 3
Neuroectodermal melanolysosomal disease (disorder) Associated morphology Neoplasm true Inferred relationship Some 4
Neuroectodermal melanolysosomal disease (disorder) Occurrence Congenital true Inferred relationship Some 4
Neuroectodermal melanolysosomal disease (disorder) Finding site Skin structure true Inferred relationship Some 4
Neuroectodermal melanolysosomal disease (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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