702344008: Pitt-Hopkins syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Pitt-Hopkins syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pitt-Hopkins syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Pitt-Hopkins syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Pitt-Hopkins syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Pitt-Hopkins syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Pitt-Hopkins syndrome
\Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Pitt-Hopkins syndrome
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Pitt-Hopkins syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Pitt-Hopkins 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
Pitt-Hopkins syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pitt-Hopkins syndrome	Has definitional manifestation	épilepsie symptomatique	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Pitt-Hopkins syndrome	Has definitional manifestation	retard mental	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Pitt-Hopkins syndrome	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pitt-Hopkins syndrome	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pitt-Hopkins syndrome	Is a	Seizure disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pitt-Hopkins syndrome	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pitt-Hopkins syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pitt-Hopkins syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pitt-Hopkins syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pitt-Hopkins syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pitt-Hopkins syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pitt-Hopkins syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Pitt-Hopkins syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

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
2995603016	Pitt-Hopkins syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995763012	Pitt-Hopkins syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995797017	PTHS - Pitt-Hopkins syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995603016	Pitt-Hopkins syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995603016	Pitt-Hopkins syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995763012	Pitt-Hopkins syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995763012	Pitt-Hopkins syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995797017	PTHS - Pitt-Hopkins syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995797017	PTHS - Pitt-Hopkins syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3426971001000113	Pitt-Hopkins-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
888771000172115	syndrome de Pitt-Hopkins	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
888771000172115	syndrome de Pitt-Hopkins	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3426971001000113	Pitt-Hopkins-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module