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232374009: Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

348141011 Choanal atresia with CHARGE association en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2914063015 Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2914325019 Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

957411000052110 koanalatresi med CHARGE-syndrom sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
koanalatresi med CHARGE-syndrom	Is a	Choanal atresia	false	Inferred relationship	Some
koanalatresi med CHARGE-syndrom	Finding site	Structure of choana (body structure)	false	Inferred relationship	Some	2
koanalatresi med CHARGE-syndrom	Occurrence	Congenital	false	Inferred relationship	Some
koanalatresi med CHARGE-syndrom	Associated morphology	medfödd missbildning	false	Inferred relationship	Some	1
koanalatresi med CHARGE-syndrom	Finding site	External nose structure	false	Inferred relationship	Some	1
koanalatresi med CHARGE-syndrom	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
koanalatresi med CHARGE-syndrom	Associated morphology	medfödd deformitet	false	Inferred relationship	Some	1
koanalatresi med CHARGE-syndrom	Associated morphology	medfödd deformitet	false	Inferred relationship	Some	3
koanalatresi med CHARGE-syndrom	Finding site	Structure of respiratory system (body structure)	false	Inferred relationship	Some	3
koanalatresi med CHARGE-syndrom	Associated morphology	medfödd deformitet	false	Inferred relationship	Some	3
koanalatresi med CHARGE-syndrom	Is a	medfödd onormal form på näsan	false	Inferred relationship	Some
koanalatresi med CHARGE-syndrom	Associated morphology	Congenital atresia	false	Inferred relationship	Some	2
koanalatresi med CHARGE-syndrom	Associated morphology	Congenital atresia	false	Inferred relationship	Some	2
koanalatresi med CHARGE-syndrom	Finding site	Structure of choana (body structure)	false	Inferred relationship	Some	2
koanalatresi med CHARGE-syndrom	Associated morphology	medfödd deformitet	false	Inferred relationship	Some	1
koanalatresi med CHARGE-syndrom	Finding site	External nose structure	false	Inferred relationship	Some	1
koanalatresi med CHARGE-syndrom	Is a	Congenital deformity of nose	false	Inferred relationship	Some
koanalatresi med CHARGE-syndrom	Is a	Disorder of external nose	false	Inferred relationship	Some
koanalatresi med CHARGE-syndrom	Occurrence	Congenital	false	Inferred relationship	Some	3
koanalatresi med CHARGE-syndrom	Occurrence	Congenital	false	Inferred relationship	Some	4
koanalatresi med CHARGE-syndrom	Finding site	Structure of choana (body structure)	false	Inferred relationship	Some	4
koanalatresi med CHARGE-syndrom	Associated morphology	Congenital atresia	false	Inferred relationship	Some	4
koanalatresi med CHARGE-syndrom	Associated morphology	medfödd deformitet	false	Inferred relationship	Some	3
koanalatresi med CHARGE-syndrom	Finding site	External nose structure	false	Inferred relationship	Some	3
koanalatresi med CHARGE-syndrom	Occurrence	Congenital	false	Inferred relationship	Some	2
koanalatresi med CHARGE-syndrom	Occurrence	Congenital	false	Inferred relationship	Some	1
koanalatresi med CHARGE-syndrom	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
koanalatresi med CHARGE-syndrom	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
koanalatresi med CHARGE-syndrom	Is a	Congenital deformity of face (disorder)	false	Inferred relationship	Some
koanalatresi med CHARGE-syndrom	Associated morphology	Deformity	false	Inferred relationship	Some	1
koanalatresi med CHARGE-syndrom	Is a	Finding of nasal deformity	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

Description inactivation indicator reference set

US English

SAME AS association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
348141011	Choanal atresia with CHARGE association	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914063015	Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914325019	Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
957411000052110	koanalatresi med CHARGE-syndrom	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)