716096005: syndrome d'hypospadias-déficience intellectuelle type Goldblatt (trouble)

• 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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Hereditary disorder of the urinary system\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Disorder of urinary tract proper (disorder)\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Disorder of urinary tract proper (disorder)\Disorder of the lower urinary tract\Disorder of urethra (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Finding of urinary tract proper (finding)\Lower urinary tract finding\Urethral finding\Urethral meatus finding\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Finding of urinary tract proper (finding)\Lower urinary tract finding\Urethral finding\Disorder of urethra (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Finding of urinary tract proper (finding)\Lower urinary tract finding\Disorder of the lower urinary tract\Disorder of urethra (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Finding of urinary tract proper (finding)\Disorder of urinary tract proper (disorder)\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Finding of urinary tract proper (finding)\Disorder of urinary tract proper (disorder)\Disorder of the lower urinary tract\Disorder of urethra (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Hereditary disorder of the urinary system\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Disorder of urinary tract proper (disorder)\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Disorder of urinary tract proper (disorder)\Disorder of the lower urinary tract\Disorder of urethra (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Hereditary disorder of the urinary system\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Disorder of urinary tract proper (disorder)\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Disorder of urinary tract proper (disorder)\Disorder of the lower urinary tract\Disorder of urethra (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Hereditary disorder of the urinary system\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Disorder of urinary tract proper (disorder)\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Disorder of urinary tract proper (disorder)\Disorder of the lower urinary tract\Disorder of urethra (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of urinary tract proper (disorder)\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of urinary tract proper (disorder)\Disorder of the lower urinary tract\Disorder of urethra (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of urinary tract proper (disorder)\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of urinary tract proper (disorder)\Disorder of the lower urinary tract\Disorder of urethra (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\trouble du développement\Developmental hereditary disorder\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome d'hypospadias-déficience intellectuelle type Goldblatt
• \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\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\syndrome d'hypospadias-déficience intellectuelle type Goldblatt

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1009981000172110	syndrome d'hypospadias-déficience intellectuelle type Goldblatt	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3304715013	Hypospadias and intellectual disability syndrome Goldblatt type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3304716014	Hypospadias and intellectual disability syndrome Goldblatt type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3304717017	Goldblatt Wallis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
749251000241112	syndrome d'hypospadias-déficience intellectuelle type Goldblatt (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
877871000172117	syndrome de Goldblatt-Wallis	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3313022010	A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and with features of hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails	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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