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

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)

\Finding related to coordination / incoordination (finding)\Ataxia\...

\Hereditary ataxia (disorder)\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)

\Cerebellar ataxia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\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

3302388019 A very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates cerebellar atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302389010 A very rare disease, characterised by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates cerebellar atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

9989661000172111 ataxie cérébelleuse concomitante d'une dysplasie ectodermique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4595371000172115 cerebellaire ataxie gelijktijdig met ectodermale dysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4595381000172117 syndroom van cerebellaire ataxie en ectodermale dysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

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

This concept is not in any reference sets

Back to Start

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
3302388019	A very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates cerebellar atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302389010	A very rare disease, characterised by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates cerebellar atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
9989661000172111	ataxie cérébelleuse concomitante d'une dysplasie ectodermique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4595371000172115	cerebellaire ataxie gelijktijdig met ectodermale dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4595381000172117	syndroom van cerebellaire ataxie en ectodermale dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)