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

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

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

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

\Finding of brain\Disorder of brain (disorder)\PPM-X syndrome

\Disorder of head (disorder)\Disorder of brain (disorder)\PPM-X syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\PPM-X syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\PPM-X syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\PPM-X syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\PPM-X syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\PPM-X syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\PPM-X syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\PPM-X syndrome
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\PPM-X syndrome
\Disease\Congenital disease (disorder)\PPM-X syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\PPM-X syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\PPM-X syndrome
\Disease\Developmental 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:

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

3687771000052114 PPM-X-syndrom 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
PPM-X syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
PPM-X syndrome	Is a	FOXG1 syndrome	false	Inferred relationship	Some
PPM-X syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
PPM-X syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
PPM-X syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
PPM-X syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
PPM-X syndrome	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
PPM-X syndrome	Is a	Developmental delay	true	Inferred relationship	Some
PPM-X syndrome	Finding site	Brain structure	true	Inferred relationship	Some	1
PPM-X syndrome	Is a	Disorder of brain (disorder)	true	Inferred relationship	Some
PPM-X syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
PPM-X syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
PPM-X syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
PPM-X syndrome	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

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Characteristic

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This concept is not in any reference sets