773769008: syndrome d'ataxie-photosensibilité-petite taille (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Effect of exposure to physical force\Disorders of skin induced by physical agents\Ataxia, photosensitivity, short stature syndrome
• \Effect of exposure to physical force\Photosensitivity\Ataxia, photosensitivity, short stature syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \affection de la peau (trouble)\Disorders of skin induced by physical agents\Ataxia, photosensitivity, short stature syndrome
• \Photosensitivity\Ataxia, photosensitivity, short stature syndrome
• \Finding related to coordination / incoordination (finding)\Ataxia\Ataxia, photosensitivity, short stature syndrome
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Ataxia, photosensitivity, short stature syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorders of skin induced by physical agents\Ataxia, photosensitivity, short stature syndrome
• \constatation générale à propos des tissus mous\Skin finding\Photosensitivity\Ataxia, photosensitivity, short stature syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorders of skin induced by physical agents\Ataxia, photosensitivity, short stature syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Ataxia, photosensitivity, short stature syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorders of skin induced by physical agents\Ataxia, photosensitivity, short stature syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorders of skin induced by physical agents\Ataxia, photosensitivity, short stature syndrome
• \Integumentary system finding\Skin finding\Photosensitivity\Ataxia, photosensitivity, short stature syndrome
• \Disease\Genetic disease\Ataxia, photosensitivity, short stature syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorders of skin induced by physical agents\Ataxia, photosensitivity, short stature syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Ataxia, photosensitivity, short stature syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Ataxia, photosensitivity, short stature syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorders of skin induced by physical agents\Ataxia, photosensitivity, short stature syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Ataxia, photosensitivity, short stature syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Ataxia, photosensitivity, short stature syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Ataxia, photosensitivity, short stature syndrome

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
772041000241110	syndrome d'ataxie-photosensibilité-petite taille (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
873931000172116	syndrome d'ataxie-photosensibilité-petite taille	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
948931000172117	syndrome de Fenton-Wilkinson-Toselano	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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