725908007: Neurofaciodigitorenal syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...
• \Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \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)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Neurofaciodigitorenal syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\...
• \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)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Neurofaciodigitorenal syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Neurofaciodigitorenal syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\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\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Neurofaciodigitorenal syndrome (disorder)
• \Disease\Developmental disorder\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
5403506012	Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by 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
5403507015	Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterised by 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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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