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715371006: Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302385016 Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302386015 Cerebellar ataxia co-occurrent with ectodermal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302387012 Cerebellar ataxia and ectodermal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400843018 A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400844012 A rare syndromic cerebellar ataxia characterised by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. 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
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Is a Ectodermal dysplasia true Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Is a Cerebellar ataxia true Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Finding site Cerebellar structure false Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Occurrence Congenital false Inferred relationship Some 3
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Occurrence Congenital false Inferred relationship Some 4
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Finding site Ectoderm structure false Inferred relationship Some 3
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Finding site Skin structure false Inferred relationship Some 4
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Is a Hereditary ataxia (disorder) true Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 1
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Finding site Skin structure true Inferred relationship Some 1
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 2
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Finding site Ectoderm structure true Inferred relationship Some 2
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Finding site Cerebellar structure true Inferred relationship Some 3
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Is a Developmental hereditary disorder 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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