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

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

\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, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (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, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (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, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (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, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (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, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (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, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (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, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (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, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (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, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)

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

5313651000052115 syndrom med intellektuell funktionsnedsättning och ansiktsmissbildning orsakat av haploinsufficiens av SETD5 sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
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
5313651000052115	syndrom med intellektuell funktionsnedsättning och ansiktsmissbildning orsakat av haploinsufficiens av SETD5	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)