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726031001: 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 Reference Sets
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 GB English: Preferred (foundation metadata concept)
3447604018 CAMOS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
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 GB English: Acceptable (foundation metadata concept)
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 GB English: Acceptable (foundation metadata concept)
3447607013 SCAR5 - spinocerebellar ataxia autosomal recessive 5 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
2104871000172111 "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) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2104881000172114 "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) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2104891000172112 "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) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2104901000172111 "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) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation 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) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)

0 descendants.

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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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