725908007: Neurofaciodigitorenal syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy\Neurofaciodigitorenal syndrome

\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Neurofaciodigitorenal syndrome

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Neurofaciodigitorenal syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Neurofaciodigitorenal syndrome
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\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
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Disorder of trunk\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
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Finding of trunk structure\Disorder of trunk\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

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Neurofaciodigitorenal syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Neurofaciodigitorenal syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Neurofaciodigitorenal syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Neurofaciodigitorenal syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neurofaciodigitorenal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Neurofaciodigitorenal syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Neurofaciodigitorenal syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk\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
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk\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
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\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
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\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
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Congenital disease\Congenital anomaly\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
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Congenital disease\Congenital anomaly\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
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Neurofaciodigitorenal syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Neurofaciodigitorenal syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Neurofaciodigitorenal syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\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
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\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
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Developmental disorder\Congenital anomaly\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
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Developmental disorder\Congenital anomaly\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
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Neurofaciodigitorenal syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3446330016 Neurofaciodigitorenal syndrome en Synonym Active Case insensitive SNOMED CT core

3446331017 Freire Maia Pinheiro Opitz syndrome en Synonym Active Case sensitive SNOMED CT core

3446332012 NFDR (neurofaciodigitorenal) syndrome en Synonym Active Case sensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neurofaciodigitorenal syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Neurofaciodigitorenal syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Neurofaciodigitorenal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Neurofaciodigitorenal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Neurofaciodigitorenal syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Neurofaciodigitorenal syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Neurofaciodigitorenal syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Neurofaciodigitorenal syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Neurofaciodigitorenal syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Neurofaciodigitorenal syndrome	Finding site	Digit structure	true	Inferred relationship	Some	2
Neurofaciodigitorenal syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Neurofaciodigitorenal syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Neurofaciodigitorenal syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Neurofaciodigitorenal syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Neurofaciodigitorenal syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Neurofaciodigitorenal syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Neurofaciodigitorenal syndrome	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Some
Neurofaciodigitorenal syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Neurofaciodigitorenal syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Neurofaciodigitorenal syndrome	Is a	Congenital anomaly of digit	true	Inferred relationship	Some
Neurofaciodigitorenal syndrome	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Neurofaciodigitorenal syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Neurofaciodigitorenal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Neurofaciodigitorenal syndrome	Finding site	Digit structure	false	Inferred relationship	Some	3
Neurofaciodigitorenal syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Neurofaciodigitorenal syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Neurofaciodigitorenal syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Neurofaciodigitorenal syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Neurofaciodigitorenal syndrome	Finding site	Face structure	false	Inferred relationship	Some	4
Neurofaciodigitorenal syndrome	Finding site	Kidney structure	false	Inferred relationship	Some	5
Neurofaciodigitorenal syndrome	Finding site	Kidney structure	true	Inferred relationship	Some	3
Neurofaciodigitorenal syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3446329014	Neurofaciodigitorenal syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3446330016	Neurofaciodigitorenal syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3446331017	Freire Maia Pinheiro Opitz syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3446332012	NFDR (neurofaciodigitorenal) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core