702356009: X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\PPM-X syndrome

\Central nervous system finding\Disorder of the central nervous system (disorder)\PPM-X syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\PPM-X syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\PPM-X syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\PPM-X syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\PPM-X syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\PPM-X syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)\PPM-X syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\PPM-X syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\PPM-X syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\PPM-X syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\PPM-X syndrome
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\PPM-X syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\PPM-X syndrome
\Disease\Developmental disorder (disorder)\Developmental delay\PPM-X syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
PPM-X syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
PPM-X syndrome	Is a	FOXG1 syndrome (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
PPM-X syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
PPM-X syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
PPM-X syndrome	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
PPM-X syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
PPM-X syndrome	Is a	Congenital disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
PPM-X syndrome	Is a	Developmental delay	true	Inferred relationship	Existential restriction modifier (core metadata concept)
PPM-X syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
PPM-X syndrome	Is a	Disorder of brain	false	Inferred relationship	Existential restriction modifier (core metadata concept)
PPM-X syndrome	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
PPM-X syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
PPM-X syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
PPM-X syndrome	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
PPM-X syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
PPM-X syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
PPM-X syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
PPM-X syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
PPM-X syndrome	Is a	Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
PPM-X syndrome	Is a	Disorder of the central nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
PPM-X syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
PPM-X syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
2995082012	PPMX - Mental retardation with psychosis, pyramidal signs, and macroorchidism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995223012	X-linked mental retardation, syndromic 13	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995755011	PPM-X syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643099014	X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643100018	X-linked intellectual disability-psychosis-macroorchidism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3787303010	Lindsay Burn syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995082012	PPMX - Mental retardation with psychosis, pyramidal signs, and macroorchidism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995223012	X-linked mental retardation, syndromic 13	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995491015	X-linked mental retardation, syndromic 13 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995755011	PPM-X syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643099014	X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643100018	X-linked intellectual disability-psychosis-macroorchidism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3787303010	Lindsay Burn syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3426631001000119	X-chromosomale Intelligenzminderung-Psychose-Makroorchidie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
918621000172117	syndrome de déficience intellectuelle liée à l'X-psychose-macroorchidie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1001731000172113	PPM-X - X-linked intellectual disability, psychosis, macroorchidism syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
918621000172117	syndrome de déficience intellectuelle liée à l'X-psychose-macroorchidie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1001731000172113	PPM-X - X-linked intellectual disability, psychosis, macroorchidism syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3426631001000119	X-chromosomale Intelligenzminderung-Psychose-Makroorchidie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module