719011002: X-linked intellectual disability Pai type (disorder)

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

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\X-linked intellectual disability Pai type (disorder)

\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked intellectual disability Pai type (disorder)

\Mental disorder\Developmental mental disorder\Intellectual disability\X-linked intellectual disability Pai type (disorder)

\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\X-linked intellectual disability Pai type (disorder)

\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\X-linked intellectual disability Pai type (disorder)
\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability Pai type (disorder)
\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\X-linked intellectual disability Pai 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	Reference Sets
3314661010	X-linked intellectual disability Pai type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3314662015	X-linked intellectual disability Pai type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3314663013	This syndrome has characteristics of the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been located to the q28 region of the X chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3896951000052112	X-bunden intellektuell funktionsnedsättning, Paityp	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability Pai type (disorder)	Is a	mental retardation	false	Inferred relationship	Some
X-linked intellectual disability Pai type (disorder)	Is a	X-linked hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability Pai type (disorder)	Is a	Congenital malformation syndrome (disorder)	true	Inferred relationship	Some
X-linked intellectual disability Pai type (disorder)	Associated morphology	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	1
X-linked intellectual disability Pai type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked intellectual disability Pai type (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability Pai type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked intellectual disability Pai type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked intellectual disability Pai type (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