1197593006: Intellectual disability, expressive aphasia, 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, expressive aphasia, facial dysmorphism syndrome (disorder)

\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, expressive aphasia, facial dysmorphism syndrome (disorder)

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

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)

\Speech finding\Disturbance in speech\Dysphasia\Expressive dysphasia\Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)

\Neurological finding\Aphasia, agnosia, dyslexia AND/OR apraxia\Dyslexia AND/OR speech dysfunction\Dysphasia\Expressive dysphasia\Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Intellectual disability, expressive aphasia, facial dysmorphism 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, expressive aphasia, facial dysmorphism 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, expressive aphasia, facial dysmorphism syndrome (disorder)
\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, expressive aphasia, facial dysmorphism syndrome (disorder)
\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, expressive aphasia, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, expressive aphasia, facial dysmorphism 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, expressive aphasia, facial dysmorphism 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, expressive aphasia, facial dysmorphism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4697296018 Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4697297010 Intellectual disability, loss of expressive language, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4697298017 Intellectual disability, expressive aphasia, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4697300017 A rare genetic syndromic intellectual disability with characteristics of moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech) and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and cafe-au-lait spots). Additional, variably observed features include motor delays, behavioural difficulties and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4697301018 A rare genetic syndromic intellectual disability with characteristics of moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech) and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and cafe-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13746741000172112 syndroom van verstandelijke handicap, motorische afasie en dysmorfie van aangezicht nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13746751000172114 syndroom van verstandelijke beperking, expressieve afasie 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, expressive aphasia, facial dysmorphism syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	Is a	Expressive dysphasia	true	Inferred relationship	Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	Interprets	Speech observable	true	Inferred relationship	Some	2
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

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
4697296018	Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4697297010	Intellectual disability, loss of expressive language, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4697298017	Intellectual disability, expressive aphasia, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4697300017	A rare genetic syndromic intellectual disability with characteristics of moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech) and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and cafe-au-lait spots). Additional, variably observed features include motor delays, behavioural difficulties and seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4697301018	A rare genetic syndromic intellectual disability with characteristics of moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech) and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and cafe-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties and seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13746741000172112	syndroom van verstandelijke handicap, motorische afasie en dysmorfie van aangezicht	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13746751000172114	syndroom van verstandelijke beperking, expressieve afasie en faciale dysmorfie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)