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

\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome

\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
\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
\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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Neurofaciodigitorenal syndrome

\Finding of limb structure (finding)\Disorder of limb\...

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

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Neurofaciodigitorenal syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Neurofaciodigitorenal syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Neurofaciodigitorenal syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\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 foetus and/or newborn\Congenital disease\Congenital malformation\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\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\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\Disorder of foetus and/or newborn\Congenital disease\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
\Disease\Disorder of foetus and/or newborn\Congenital disease\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
\Disease\Disorder of foetus and/or newborn\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
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\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
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Neurofaciodigitorenal syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Neurofaciodigitorenal syndrome
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Neurofaciodigitorenal syndrome
\Disease\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome
\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
\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
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Neurofaciodigitorenal syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\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
\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
\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
\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
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Neurofaciodigitorenal syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Neurofaciodigitorenal syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\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 (disorder)\Congenital malformation\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 (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
\Disease\Developmental disorder (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
\Disease\Developmental disorder (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
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Neurofaciodigitorenal syndrome
\Disease\Developmental disorder (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
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Neurofaciodigitorenal syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Neurofaciodigitorenal syndrome

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

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

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

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

3396551001000114 Neuro-fazio-digito-renales Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

958891000172114 syndrome de Freire Maia-Pinheiro-Opitz fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

969691000172113 syndrome neuro-facio-digito-rénal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

958891000172114 syndrome de Freire Maia-Pinheiro-Opitz fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

969691000172113 syndrome neuro-facio-digito-rénal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3396551001000114 Neuro-fazio-digito-renales Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neurofaciodigitorenal syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurofaciodigitorenal syndrome	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurofaciodigitorenal syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurofaciodigitorenal syndrome	Is a	retard mental	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurofaciodigitorenal syndrome	Is a	Congenital anomaly of digit	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurofaciodigitorenal syndrome	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurofaciodigitorenal syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Neurofaciodigitorenal syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Neurofaciodigitorenal syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Neurofaciodigitorenal syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Neurofaciodigitorenal syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Neurofaciodigitorenal syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Neurofaciodigitorenal syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Neurofaciodigitorenal syndrome	Finding site	Face structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Neurofaciodigitorenal syndrome	Finding site	Kidney structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Neurofaciodigitorenal syndrome	Finding site	Kidney structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Neurofaciodigitorenal syndrome	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurofaciodigitorenal syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurofaciodigitorenal syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neurofaciodigitorenal syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurofaciodigitorenal syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neurofaciodigitorenal syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurofaciodigitorenal syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Neurofaciodigitorenal syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neurofaciodigitorenal syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Neurofaciodigitorenal syndrome	Finding site	Face structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurofaciodigitorenal syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neurofaciodigitorenal syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurofaciodigitorenal syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Neurofaciodigitorenal syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Neurofaciodigitorenal syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Neurofaciodigitorenal syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

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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
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
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
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
3396551001000114	Neuro-fazio-digito-renales Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
958891000172114	syndrome de Freire Maia-Pinheiro-Opitz	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
969691000172113	syndrome neuro-facio-digito-rénal	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
958891000172114	syndrome de Freire Maia-Pinheiro-Opitz	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
969691000172113	syndrome neuro-facio-digito-rénal	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3396551001000114	Neuro-fazio-digito-renales Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module