719017003: X-linked intellectual disability Armfield type (disorder)

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

\Genetic disease\Hereditary disease\...

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

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

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

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

\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\X-linked intellectual disability Armfield type (disorder)
\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability Armfield type (disorder)
\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\X-linked intellectual disability Armfield 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
3314681011	X-linked intellectual disability Armfield type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3314682016	X-linked intellectual disability Armfield type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3314684015	Armfield syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3314683014	This syndrome has characteristics of intellectual deficiency, short stature, seizures and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts and or glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3917191000052113	X-bunden intellektuell funktionsnedsättning, Armfieldtyp	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 Armfield type (disorder)	Is a	mental retardation	false	Inferred relationship	Some
X-linked intellectual disability Armfield type (disorder)	Is a	X-linked hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability Armfield type (disorder)	Is a	Congenital malformation syndrome (disorder)	true	Inferred relationship	Some
X-linked intellectual disability Armfield type (disorder)	Associated morphology	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	1
X-linked intellectual disability Armfield type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked intellectual disability Armfield type (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability Armfield type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked intellectual disability Armfield type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked intellectual disability Armfield 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