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773769008: Ataxia, photosensitivity, short stature syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3726290016 Ataxia, photosensitivity, short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3726291017 Fenton Wilkinson Toselano syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3726292012 Ataxia, photosensitivity, short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3726293019 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3726290016 Ataxia, photosensitivity, short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3726291017 Fenton Wilkinson Toselano syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3726292012 Ataxia, photosensitivity, short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3726293019 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3450131001000113 Ataxie-Lichtempfindlichkeit-Kleinwuchs-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
873931000172116 syndrome d'ataxie-photosensibilité-petite taille fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
948931000172117 syndrome de Fenton-Wilkinson-Toselano fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
873931000172116 syndrome d'ataxie-photosensibilité-petite taille fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
948931000172117 syndrome de Fenton-Wilkinson-Toselano fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450131001000113 Ataxie-Lichtempfindlichkeit-Kleinwuchs-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ataxia, photosensitivity, short stature syndrome (disorder) Causative agent (attribute) Light, electromagnetic radiation (physical force) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ataxia, photosensitivity, short stature syndrome (disorder) Is a Disorders of skin induced by physical agents false Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ataxia, photosensitivity, short stature syndrome (disorder) Is a Hereditary ataxia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Is a Photosensitivity true Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ataxia, photosensitivity, short stature syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ataxia, photosensitivity, short stature syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ataxia, photosensitivity, short stature syndrome (disorder) Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ataxia, photosensitivity, short stature syndrome (disorder) Is a Ataxia true Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ataxia, photosensitivity, short stature syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ataxia, photosensitivity, short stature syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 5
Ataxia, photosensitivity, short stature syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Ataxia, photosensitivity, short stature syndrome (disorder) Is a Disorder of skin caused by radiation (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 6
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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