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702344008: Pitt-Hopkins syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Pitt-Hopkins syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Pitt-Hopkins syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Pitt-Hopkins syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Pitt-Hopkins syndrome

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

\Finding of brain\Seizure\Seizure disorder\Pitt-Hopkins syndrome
\Finding of brain\Disorder of brain\Seizure disorder\Pitt-Hopkins syndrome

\Disorder of head\Disorder of brain\Seizure disorder\Pitt-Hopkins syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Pitt-Hopkins syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Pitt-Hopkins syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Pitt-Hopkins syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Pitt-Hopkins syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\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\Hereditary disorder of nervous system\Pitt-Hopkins syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Pitt-Hopkins syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Pitt-Hopkins syndrome
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Pitt-Hopkins syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Pitt-Hopkins syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Pitt-Hopkins syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

2995603016 Pitt-Hopkins syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

2995763012 Pitt-Hopkins syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

2995797017 PTHS - Pitt-Hopkins syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

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
Pitt-Hopkins syndrome	Has definitional manifestation	Symptomatic generalized epilepsy	false	Inferred relationship	Existential restriction modifier
Pitt-Hopkins syndrome	Has definitional manifestation	Mental retardation	false	Inferred relationship	Existential restriction modifier
Pitt-Hopkins syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Pitt-Hopkins syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Pitt-Hopkins syndrome	Is a	Seizure disorder	true	Inferred relationship	Existential restriction modifier
Pitt-Hopkins syndrome	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	1
Pitt-Hopkins syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	2
Pitt-Hopkins syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Pitt-Hopkins syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Pitt-Hopkins syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	2
Pitt-Hopkins syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2
Pitt-Hopkins syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	3
Pitt-Hopkins syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2995603016	Pitt-Hopkins syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2995763012	Pitt-Hopkins syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
2995797017	PTHS - Pitt-Hopkins syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module