1177167002: Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome

\Finding of head and neck region\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, seizures, abnormal gait, facial dysmorphism syndrome

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome

\Disease\Genetic disease\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
\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, seizures, abnormal gait, facial dysmorphism syndrome
\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, seizures, abnormal gait, facial dysmorphism syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
\Disease\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, seizures, abnormal gait, facial dysmorphism syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
\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, seizures, abnormal gait, facial dysmorphism syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4643799014 Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4643800013 Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4643801012 Skraban Deardorff syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4643802017 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, seizures, abnormal gait and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13978471000172116 syndrome de déficience intellectuelle, convulsions, démarche anormale et dysmorphie faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13978481000172118 syndrome de Skraban-Deardorff fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7382681000172112 Skraban-Deardorff-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7382691000172110 syndroom van Skraban-Deardorff nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7382701000172110 syndroom van verstandelijke handicap, insulten, afwijkend looppatroon en faciale dysmorfie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7382711000172113 syndroom van verstandelijke beperking, epileptische aanvallen, afwijkende gang en faciale dysmorfie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7382721000172115 syndroom van mentale retardatie, convulsies, afwijkende gang en faciale dysmorfie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	Is a	Global developmental delay	true	Inferred relationship	Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	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
4643799014	Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4643800013	Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4643801012	Skraban Deardorff syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4643802017	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, seizures, abnormal gait and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13978471000172116	syndrome de déficience intellectuelle, convulsions, démarche anormale et dysmorphie faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13978481000172118	syndrome de Skraban-Deardorff	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7382681000172112	Skraban-Deardorff-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7382691000172110	syndroom van Skraban-Deardorff	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7382701000172110	syndroom van verstandelijke handicap, insulten, afwijkend looppatroon en faciale dysmorfie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7382711000172113	syndroom van verstandelijke beperking, epileptische aanvallen, afwijkende gang en faciale dysmorfie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7382721000172115	syndroom van mentale retardatie, convulsies, afwijkende gang en faciale dysmorfie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)