721146009: syndroom van verstandelijke beperking, epilepsie en knolvormige neus (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\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\Intellectual disability, epilepsy, bulbous nose 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\Intellectual disability, epilepsy, bulbous nose 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\Intellectual disability, epilepsy, bulbous nose syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Intellectual disability, epilepsy, bulbous nose syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Intellectual disability, epilepsy, bulbous nose syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Intellectual disability, epilepsy, bulbous nose syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, epilepsy, bulbous nose syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, epilepsy, bulbous nose syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability, epilepsy, bulbous nose 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\Intellectual disability, epilepsy, bulbous nose 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\Intellectual disability, epilepsy, bulbous nose 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\Intellectual disability, epilepsy, bulbous nose 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\Intellectual disability, epilepsy, bulbous nose syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, epilepsy, bulbous nose syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, epilepsy, bulbous nose syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, epilepsy, bulbous nose 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\Intellectual disability, epilepsy, bulbous nose syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3323699012 Intellectual disability, epilepsy, bulbous nose syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323700013 Intellectual disability, epilepsy, bulbous nose syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323701012 Hernandez Aguirre Negrete syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6771491000146115 syndroom van mentale retardatie, epilepsie en knolvormige neus nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6894551000146116 syndroom van Hernández-Aguirre-Negrete nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7495851000146110 syndroom van verstandelijke beperking, epilepsie en knolvormige neus (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7576391000146116 syndroom van verstandelijke beperking, epilepsie en knolvormige neus nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7576401000146118 syndroom van verstandelijke handicap, epilepsie en knolvormige neus nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3323702017 This syndrome has characteristics of major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3323699012	Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323700013	Intellectual disability, epilepsy, bulbous nose syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323701012	Hernandez Aguirre Negrete syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6771491000146115	syndroom van mentale retardatie, epilepsie en knolvormige neus	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6894551000146116	syndroom van Hernández-Aguirre-Negrete	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7495851000146110	syndroom van verstandelijke beperking, epilepsie en knolvormige neus (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7576391000146116	syndroom van verstandelijke beperking, epilepsie en knolvormige neus	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7576401000146118	syndroom van verstandelijke handicap, epilepsie en knolvormige neus	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3323702017	This syndrome has characteristics of major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core