1304117006: KLHL7-gerelateerd syndroom gelijkend op 'cold-induced sweating'-syndroom (aandoening)

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

\Genetic disease\Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5309359018 KLHL7-related Crisponi-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5309360011 Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5309361010 Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5309362015 KLHL7-related Crisponi/cold-induced sweating-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5309363013 KLHL7 (kelch like family member 7) related Crisponi/cold-induced sweating-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

15097681000146117 KLHL7-gerelateerd syndroom gelijkend op 'cold-induced sweating'-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

15097691000146115 KLHL7-gerelateerd syndroom gelijkend op CISS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

15097701000146115 KLHL7-gerelateerd syndroom gelijkend op 'cold-induced sweating'-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

15097711000146118 KLHL7-gerelateerd syndroom gelijkend op Crisponi-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
Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder)	Is a	Genetic disease	true	Inferred relationship	Some
Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)