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

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)

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

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

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

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

3447604018 CAMOS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

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

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

3447607013 SCAR5 - spinocerebellar ataxia autosomal recessive 5 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3447608015 Syndrome with the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5995591000172113 syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

2104911000172114 autosomaal recessieve spinocerebellaire ataxie type 5 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5993191000172117 syndroom van cerebellaire ataxie, verstandelijke handicap, opticusatrofie en huidafwijkingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5993201000172119 syndroom van cerebellaire ataxie, verstandelijke beperking, opticusatrofie en huidafwijkingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5993211000172116 syndroom van cerebellaire ataxie, mentale retardatie, opticusatrofie en huidafwijkingen 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, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Early onset cerebellar ataxia	true	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Inherited optic neuropathy	true	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Cutaneous vascular malformation (disorder)	true	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Congenital atrophy of optic nerve (disorder)	true	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Finding site	Cerebellar structure	false	Inferred relationship	Some	3
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Finding site	Blood vessel structure of skin (body structure)	false	Inferred relationship	Some	4
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Associated morphology	Atrophy	false	Inferred relationship	Some	5
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Finding site	Optic nerve structure	false	Inferred relationship	Some	5
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Finding site	Blood vessel structure of skin (body structure)	true	Inferred relationship	Some	3
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Congenital anomaly of optic nerve	true	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Associated morphology	Atrophy	true	Inferred relationship	Some	2
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Finding site	Optic nerve structure	true	Inferred relationship	Some	2
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5

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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 (core metadata concept)	SNOMED CT core
3447604018	CAMOS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447605017	CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447606016	Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3447607013	SCAR5 - spinocerebellar ataxia autosomal recessive 5	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447608015	Syndrome with the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5995591000172113	syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
2104911000172114	autosomaal recessieve spinocerebellaire ataxie type 5	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5993191000172117	syndroom van cerebellaire ataxie, verstandelijke handicap, opticusatrofie en huidafwijkingen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5993201000172119	syndroom van cerebellaire ataxie, verstandelijke beperking, opticusatrofie en huidafwijkingen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5993211000172116	syndroom van cerebellaire ataxie, mentale retardatie, opticusatrofie en huidafwijkingen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)