773280009: Hydrocephalus, blue sclera, nephropathy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \hydrocéphalie\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Sclera and episclera finding\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \affection de la tête\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Sclera and episclera finding\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy 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
3722879018	Hydrocephalus, blue sclera, nephropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3722880015	Daentl Townsend Siegel syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3722882011	Hydrocephalus, blue sclera, nephropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3722881016	A rare genetic renal or urinary tract malformation syndrome with characteristics of nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.	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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