718577005: X-gebonden verstandelijke beperking type Atkin (aandoening)

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

\Head finding (finding)\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\X-linked intellectual disability Atkin type (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked intellectual disability Atkin type (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\X-linked intellectual disability Atkin type (disorder)

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\X-linked intellectual disability Atkin type (disorder)
\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\X-linked intellectual disability Atkin type (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\X-linked intellectual disability Atkin type (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked intellectual disability Atkin type (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Atkin type (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Atkin type (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Atkin type (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\X-linked intellectual disability Atkin type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked intellectual disability Atkin type (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked intellectual disability Atkin type (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability Atkin type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability Atkin type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked intellectual disability Atkin type (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\X-linked intellectual disability Atkin type (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability Atkin type (disorder)	Is a	macrocefalie	false	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	Associated morphology	congenitale vergroting	false	Inferred relationship	Some	1
X-linked intellectual disability Atkin type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked intellectual disability Atkin type (disorder)	Finding site	Entire head	false	Inferred relationship	Some	1
X-linked intellectual disability Atkin type (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked intellectual disability Atkin type (disorder)	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked intellectual disability Atkin type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	2
X-linked intellectual disability Atkin type (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
X-linked intellectual disability Atkin type (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	3
X-linked intellectual disability Atkin type (disorder)	Is a	Congenital macrocephaly (disorder)	true	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	Interprets	Head circumference	true	Inferred relationship	Some	3
X-linked intellectual disability Atkin type (disorder)	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
X-linked intellectual disability Atkin type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
X-linked intellectual disability Atkin type (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
X-linked intellectual disability Atkin type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5

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
3310201013	X-linked intellectual disability Atkin type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3310203011	X-linked intellectual disability Atkin type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3312823014	Atkin Flaitz syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6744461000146111	X-gebonden mentale retardatie type Atkin	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6744471000146117	syndroom van Atkin-Flaitz	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494471000146116	X-gebonden verstandelijke beperking type Atkin (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7559531000146119	X-gebonden verstandelijke beperking type Atkin	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7559541000146110	X-gebonden verstandelijke handicap type Atkin	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3312824015	Atkin-Flaitz syndrome has characteristics of moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core