726031001: Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Congenital anomaly of skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Vascular disease of the skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Finding related to coordination / incoordination\Ataxia\...

\Hereditary ataxia\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Cerebellar ataxia\Early onset cerebellar ataxia\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Vascular disease of the skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel\Congenital vascular disorder\Congenital vascular malformation\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel\Vascular disease of the skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel\Congenital vascular disorder\Congenital vascular malformation\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel\Vascular disease of the skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

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

\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\Inherited optic neuropathy\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Congenital anomaly of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Optic atrophy\Congenital atrophy of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Vascular disease of the skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel\Congenital vascular disorder\Congenital vascular malformation\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel\Vascular disease of the skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel\Congenital vascular disorder\Congenital vascular malformation\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel\Vascular disease of the skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Degenerative disorder\Congenital degeneration of nervous system\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Congenital anomaly of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited optic neuropathy\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel\Congenital vascular disorder\Congenital vascular malformation\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel\Vascular disease of the skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Congenital disease\Congenital atrophy of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of soft tissue\Disorder of blood vessel\Congenital vascular disorder\Congenital vascular malformation\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Disorder of soft tissue\Disorder of blood vessel\Vascular disease of the skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Cutaneous vascular malformation\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

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

3447603012 Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3447604018 CAMOS syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3447605017 CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3447606016 Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3447607013 SCAR5 - spinocerebellar ataxia autosomal recessive 5 en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Early onset cerebellar ataxia	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Inherited optic neuropathy	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Hereditary disorder of the visual system	false	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Cutaneous vascular malformation	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Congenital atrophy of optic nerve	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Finding site	Cerebellar structure	false	Inferred relationship	Existential restriction modifier	3
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Finding site	Blood vessel structure of skin	false	Inferred relationship	Existential restriction modifier	4
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Associated morphology	Atrophy	false	Inferred relationship	Existential restriction modifier	5
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Finding site	Optic nerve structure	false	Inferred relationship	Existential restriction modifier	5
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Finding site	Blood vessel structure of skin	true	Inferred relationship	Existential restriction modifier	3
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Hereditary ataxia	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Congenital anomaly of optic nerve	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Associated morphology	Atrophy	true	Inferred relationship	Existential restriction modifier	2
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Finding site	Optic nerve structure	true	Inferred relationship	Existential restriction modifier	2
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Existential restriction modifier	1
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3447603012	Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3447604018	CAMOS syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3447605017	CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3447606016	Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3447607013	SCAR5 - spinocerebellar ataxia autosomal recessive 5	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module