422437002: X-gebonden verstandelijke beperking met marfanoïde habitus (aandoening)

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

\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\X-linked intellectual disability with marfanoid habitus (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with marfanoid habitus (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with marfanoid habitus (disorder)

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

\Finding of general observation of appearance\Physique finding\Marfanoid physique\X-linked intellectual disability with marfanoid habitus (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked intellectual disability with marfanoid habitus (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability with marfanoid habitus (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability with marfanoid habitus (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability with marfanoid habitus (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability with marfanoid habitus (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with marfanoid habitus (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with marfanoid habitus (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with marfanoid habitus (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with marfanoid habitus (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability with marfanoid habitus (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability with marfanoid habitus (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with marfanoid habitus (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with marfanoid habitus (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2007. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability with marfanoid habitus (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
X-linked intellectual disability with marfanoid habitus (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability with marfanoid habitus (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability with marfanoid habitus (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked intellectual disability with marfanoid habitus (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability with marfanoid habitus (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability with marfanoid habitus (disorder)	Is a	Marfanoid physique	true	Inferred relationship	Some
X-linked intellectual disability with marfanoid habitus (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
X-linked intellectual disability with marfanoid habitus (disorder)	Interprets	Physique type	true	Inferred relationship	Some	2
X-linked intellectual disability with marfanoid habitus (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked intellectual disability with marfanoid habitus (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
X-linked intellectual disability with marfanoid habitus (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked intellectual disability with marfanoid habitus (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
X-linked intellectual disability with marfanoid habitus (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
X-linked intellectual disability with marfanoid habitus (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
X-linked intellectual disability with marfanoid habitus (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2645975014	X-linked mental retardation with marfanoid habitus syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2649528010	Lujan-Fryns syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643150013	X-linked intellectual disability with marfanoid habitus (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643151012	X-linked intellectual disability with marfanoid habitus	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6956921000146112	syndroom van Lujan	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6956931000146114	X-gebonden mentale retardatie met marfanoïde habitus	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6956941000146118	syndroom van Lujan-Fryns	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494451000146112	X-gebonden verstandelijke beperking met marfanoïde habitus (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7721791000146112	X-gebonden verstandelijke beperking met marfanoïde habitus	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7869061000146114	X-gebonden verstandelijke handicap met marfanoïde habitus	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)