725908007: syndrome neuro-facio-digito-rénal (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\...
• \Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \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\Congenital anomaly of abdomen\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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 kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \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 kidney and/or ureter (disorder)\Kidney disease\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Congenital anomaly of abdomen\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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 kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \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 kidney and/or ureter (disorder)\Kidney disease\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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 kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \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 kidney and/or ureter (disorder)\Kidney disease\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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 kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \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 kidney and/or ureter (disorder)\Kidney disease\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Congenital malformation of the urinary system\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Neurofaciodigitorenal syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Neurofaciodigitorenal syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \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\anomalie congénitale des reins\Neurofaciodigitorenal syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal 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
3446329014	Neurofaciodigitorenal syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3446330016	Neurofaciodigitorenal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3446331017	Freire Maia Pinheiro Opitz syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3446332012	NFDR (neurofaciodigitorenal) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
761831000241113	syndrome neuro-facio-digito-rénal (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
958891000172114	syndrome de Freire Maia-Pinheiro-Opitz	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
969691000172113	syndrome neuro-facio-digito-rénal	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3446333019	A multiple developmental anomalies syndrome with characteristics of neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.	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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