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772127009: White Sutton syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\White Sutton syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\White Sutton syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\White Sutton syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\White Sutton syndrome (disorder)

\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\White Sutton syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3717153017 White Sutton syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3717154011 White Sutton syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3716697013 Syndrome with manifestations of borderline normal to severe intellectual disability. Most affected individuals have autism spectrum disorder (ASD), which can occur with characteristics that are unusual in people with ASD, such as an overly friendly demeanor. Other characteristics include delayed development, microcephaly, brachycephaly, hypertelorism, midface hypoplasia, small mouth with a thin upper lip. Diaphragmatic hernia is present in some cases. Caused by mutations in the POGZ gene. POGZ gene mutations are thought to impair the ability of the POGZ protein to bind to chromatin, leading to abnormal gene expression that affects development of the brain and other body systems. May be inherited in an autosomal dominant pattern, however most cases result from de novo mutations in the gene. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4703951000172112 WHSUS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4703961000172114 White-Sutton-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4703971000172117 syndroom van White-Sutton nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4703981000172119 MRD37 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
White Sutton syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
White Sutton syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
White Sutton syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
White Sutton syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
White Sutton syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
White Sutton syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3717153017	White Sutton syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3717154011	White Sutton syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3716697013	Syndrome with manifestations of borderline normal to severe intellectual disability. Most affected individuals have autism spectrum disorder (ASD), which can occur with characteristics that are unusual in people with ASD, such as an overly friendly demeanor. Other characteristics include delayed development, microcephaly, brachycephaly, hypertelorism, midface hypoplasia, small mouth with a thin upper lip. Diaphragmatic hernia is present in some cases. Caused by mutations in the POGZ gene. POGZ gene mutations are thought to impair the ability of the POGZ protein to bind to chromatin, leading to abnormal gene expression that affects development of the brain and other body systems. May be inherited in an autosomal dominant pattern, however most cases result from de novo mutations in the gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4703951000172112	WHSUS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4703961000172114	White-Sutton-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4703971000172117	syndroom van White-Sutton	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4703981000172119	MRD37	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)