719811001: X-linked intellectual disability Cabezas type (disorder)

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

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

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

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Cabezas type (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Cabezas type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\X-linked intellectual disability Cabezas type (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability Cabezas type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability Cabezas type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\X-linked intellectual disability Cabezas type (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3317993013 X-linked intellectual disability Cabezas type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3317994019 X-linked intellectual disability Cabezas type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3317995018 Cabezas syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3317996017 This syndrome has characteristics of intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3777390011 This syndrome has characteristics of intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3933721000052112 X-bunden intellektuell funktionsnedsättning, Cabezas typ sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability Cabezas type (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
X-linked intellectual disability Cabezas type (disorder)	Is a	mental retardation	false	Inferred relationship	Some
X-linked intellectual disability Cabezas type (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability Cabezas type (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
X-linked intellectual disability Cabezas type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked intellectual disability Cabezas type (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability Cabezas type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked intellectual disability Cabezas type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked intellectual disability Cabezas type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability Cabezas type (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability Cabezas type (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
X-linked intellectual disability Cabezas type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
X-linked intellectual disability Cabezas type (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
X-linked intellectual disability Cabezas type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

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
3317993013	X-linked intellectual disability Cabezas type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317994019	X-linked intellectual disability Cabezas type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317995018	Cabezas syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317996017	This syndrome has characteristics of intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3777390011	This syndrome has characteristics of intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3933721000052112	X-bunden intellektuell funktionsnedsättning, Cabezas typ	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)