773699009: Pitt-Hopkins-achtig syndroom (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. 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

6796691000146115 Pitt-Hopkins-achtig syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6796701000146115 Pitt-Hopkins-achtig syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pitt-Hopkins-achtig syndroom (aandoening)	Finding site	Brain structure	false	Inferred relationship	Some	2
Pitt-Hopkins-achtig syndroom (aandoening)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Pitt-Hopkins-achtig syndroom (aandoening)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Pitt-Hopkins-achtig syndroom (aandoening)	Is a	Intellectual disability	false	Inferred relationship	Some
Pitt-Hopkins-achtig syndroom (aandoening)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Pitt-Hopkins-achtig syndroom (aandoening)	Is a	Multiple malformation syndrome with facial defects as major feature	false	Inferred relationship	Some
Pitt-Hopkins-achtig syndroom (aandoening)	Occurrence	Congenital	false	Inferred relationship	Some	1
Pitt-Hopkins-achtig syndroom (aandoening)	Finding site	Face structure	false	Inferred relationship	Some	1
Pitt-Hopkins-achtig syndroom (aandoening)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Pitt-Hopkins-achtig syndroom (aandoening)	Occurrence	Congenital	false	Inferred relationship	Some	2
Pitt-Hopkins-achtig syndroom (aandoening)	Is a	Seizure disorder	false	Inferred relationship	Some
Pitt-Hopkins-achtig syndroom (aandoening)	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Pitt-Hopkins-achtig syndroom (aandoening)	Is a	Congenital neurological disorder (disorder)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)