782736007: Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)

• 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, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \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, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \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, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \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\Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \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\Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \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, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \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, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755539011	Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755540013	Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755541012	Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755542017	A rare syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755543010	A rare syndromic intellectual disability characterised by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioural issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755539011	Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755540013	Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755541012	Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755542017	A rare syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755543010	A rare syndromic intellectual disability characterised by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioural issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442411001000111	Intelligenzminderung-Gesichtsdysmorphie-Syndrom durch SETD5-Haploinsuffizienz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6027111000241110	syndrome de déficience intellectuelle et dysmorphie faciale par haploinsuffisance de SETD5	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6027111000241110	syndrome de déficience intellectuelle et dysmorphie faciale par haploinsuffisance de SETD5	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442411001000111	Intelligenzminderung-Gesichtsdysmorphie-Syndrom durch SETD5-Haploinsuffizienz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start