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724091002: Neuroectodermal melanolysosomal disease (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3430547010 Neuroectodermal melanolysosomal disease (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3430548017 Neuroectodermal melanolysosomal disease en Synonym Active Entire term case insensitive SNOMED CT core module
3430549013 Elejalde disease en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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