732961003: Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Developmental malformation of branchial arch (disorder)\Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Developmental malformation of branchial arch (disorder)\Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Developmental malformation of branchial arch (disorder)\Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498458015 Lambert syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3498459011 Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498460018 Branchial dysplasia, intellectual disability, inguinal hernia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3499928011 A very rare syndrome described in four siblings of one French family and with characteristics of branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal hernia and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

11246501000172118 syndrome de Lambert fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11246511000172115 syndrome de dysplasie branchiale, déficience intellectuelle et hernie inguinale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5152441000172117 syndroom van Lambert nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5152451000172115 syndroom van branchiale dysplasie, mentale retardatie en hernia inguinalis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5152461000172118 syndroom van branchiale dysplasie, verstandelijke beperking en hernia inguinalis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5152471000172110 syndroom van branchiale dysplasie, verstandelijke handicap en hernia inguinalis 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
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Some
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Is a	Developmental malformation of branchial arch (disorder)	true	Inferred relationship	Some
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Finding site	Branchial arch structure	true	Inferred relationship	Some	1
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Branchial dysplasia, intellectual disability, inguinal hernia 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
3498458015	Lambert syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498459011	Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498460018	Branchial dysplasia, intellectual disability, inguinal hernia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499928011	A very rare syndrome described in four siblings of one French family and with characteristics of branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal hernia and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11246501000172118	syndrome de Lambert	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11246511000172115	syndrome de dysplasie branchiale, déficience intellectuelle et hernie inguinale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5152441000172117	syndroom van Lambert	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5152451000172115	syndroom van branchiale dysplasie, mentale retardatie en hernia inguinalis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5152461000172118	syndroom van branchiale dysplasie, verstandelijke beperking en hernia inguinalis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5152471000172110	syndroom van branchiale dysplasie, verstandelijke handicap en hernia inguinalis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)