773699009: Pitt Hopkins-like syndrome (disorder)

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

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

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

\Finding of brain\Seizure\Seizure disorder\Pitt Hopkins-like syndrome (disorder)
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Pitt Hopkins-like syndrome (disorder)

\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\Pitt Hopkins-like syndrome (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Pitt Hopkins-like syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Pitt Hopkins-like syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Pitt Hopkins-like syndrome (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Pitt Hopkins-like syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Pitt Hopkins-like syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pitt Hopkins-like syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pitt Hopkins-like syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Pitt Hopkins-like syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Pitt Hopkins-like syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Pitt Hopkins-like syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Pitt Hopkins-like syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Pitt Hopkins-like syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Pitt Hopkins-like syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Pitt Hopkins-like syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Pitt Hopkins-like syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Pitt Hopkins-like syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Pitt Hopkins-like syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Pitt Hopkins-like syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Pitt Hopkins-like syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Pitt Hopkins-like syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3725826018 Pitt Hopkins-like syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3725827010 Pitt Hopkins-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4226071000052119 Pitt Hopkins-liknande 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
Pitt Hopkins-like syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	2
Pitt Hopkins-like syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Pitt Hopkins-like syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pitt Hopkins-like syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Pitt Hopkins-like syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pitt Hopkins-like syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Pitt Hopkins-like syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Pitt Hopkins-like syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Pitt Hopkins-like syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Pitt Hopkins-like syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Pitt Hopkins-like syndrome (disorder)	Is a	Seizure disorder	true	Inferred relationship	Some
Pitt Hopkins-like syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
3725826018	Pitt Hopkins-like syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3725827010	Pitt Hopkins-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4226071000052119	Pitt Hopkins-liknande syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)