1304116002: Kelch like family member 7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome
• \Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome
• \Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome

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
5309353017	PERCHING syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5309354011	KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5309355012	Kelch like family member 7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5309356013	Kelch like family member 7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5309358014	KLHL7 (kelch like family member 7) related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5309357016	A rare genetic, multiple congenital anomalies syndrome with characteristics of the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5309353017	PERCHING syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5309354011	KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5309355012	Kelch like family member 7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5309356013	Kelch like family member 7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5309358014	KLHL7 (kelch like family member 7) related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5309357016	A rare genetic, multiple congenital anomalies syndrome with characteristics of the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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