718909001: X-linked intellectual disability Stevenson 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 Stevenson type (disorder)

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson type (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson type (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson type (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson type (disorder)

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

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Stevenson type (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Stevenson type (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson type (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson type (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson type (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability Stevenson type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability Stevenson type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability Stevenson 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

3314380018 X-linked intellectual disability Stevenson type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3314381019 X-linked intellectual disability Stevenson type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3314382014 This syndrome has characteristics of intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3901851000052118 X-bunden intellektuell funktionsnedsättning, Stevensontyp 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 Stevenson type (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
X-linked intellectual disability Stevenson type (disorder)	Is a	mental retardation	false	Inferred relationship	Some
X-linked intellectual disability Stevenson type (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability Stevenson type (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
X-linked intellectual disability Stevenson type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
X-linked intellectual disability Stevenson type (disorder)	Finding site	Limb structure	false	Inferred relationship	Some	2
X-linked intellectual disability Stevenson type (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
X-linked intellectual disability Stevenson type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
X-linked intellectual disability Stevenson type (disorder)	Finding site	Face structure	false	Inferred relationship	Some	3
X-linked intellectual disability Stevenson type (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
X-linked intellectual disability Stevenson type (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability Stevenson type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked intellectual disability Stevenson type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked intellectual disability Stevenson type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked intellectual disability Stevenson type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
X-linked intellectual disability Stevenson type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
X-linked intellectual disability Stevenson type (disorder)	Finding site	Limb structure	true	Inferred relationship	Some	1
X-linked intellectual disability Stevenson type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability Stevenson type (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability Stevenson type (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
X-linked intellectual disability Stevenson type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
X-linked intellectual disability Stevenson type (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
X-linked intellectual disability Stevenson type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3314380018	X-linked intellectual disability Stevenson type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314381019	X-linked intellectual disability Stevenson type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314382014	This syndrome has characteristics of intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3901851000052118	X-bunden intellektuell funktionsnedsättning, Stevensontyp	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)