154341000146107: aan duale specificiteit tyrosinefosforylatie-gereguleerde kinase 1A gerelateerd syndroom van verstandelijke beperking (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

12991121000146114 Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12991131000146111 Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12991141000146115 DYRK1A-related intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12998151000146112 DYRK1A-gerelateerd syndroom van verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12998161000146110 DYRK1A-gerelateerd syndroom van verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12998171000146116 aan duale specificiteit tyrosinefosforylatie-gereguleerde kinase 1A gerelateerd syndroom van verstandelijke beperking (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12998181000146119 aan duale specificiteit tyrosinefosforylatie-gereguleerde kinase 1A gerelateerd syndroom van verstandelijke beperking nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12998191000146117 aan duale specificiteit tyrosinefosforylatie-gereguleerde kinase 1A gerelateerd syndroom van mentale retardatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
DYRK1A-gerelateerd syndroom van verstandelijke beperking	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
DYRK1A-gerelateerd syndroom van verstandelijke beperking	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
DYRK1A-gerelateerd syndroom van verstandelijke beperking	Is a	Genetic disease	false	Inferred relationship	Some
DYRK1A-gerelateerd syndroom van verstandelijke beperking	Occurrence	Congenital	false	Inferred relationship	Some	1
DYRK1A-gerelateerd syndroom van verstandelijke beperking	Finding site	Face structure	false	Inferred relationship	Some	1
DYRK1A-gerelateerd syndroom van verstandelijke beperking	Is a	Intellectual disability	false	Inferred relationship	Some
DYRK1A-gerelateerd syndroom van verstandelijke beperking	Is a	Multiple malformation syndrome with facial defects as major feature	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder)	Is a	False	DYRK1A-gerelateerd syndroom van verstandelijke beperking	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)