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1269235004: Autosomal recessive extra-oral halitosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5183283018 Methanethiol oxidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5183284012 MTO (methanethiol oxidase) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5183285013 Autosomal recessive extra-oral halitosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5183286014 Autosomal recessive extra-oral halitosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5183287017 A rare inborn error of metabolism characterised by cabbage-like breath odour with high levels of methanethiol and dimethylsulfide in oral and nasal breath due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide and dimethylsulfone in blood, cerebrospinal fluid (CSF) and urine. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5183288010 A rare inborn error of metabolism characterized by cabbage-like breath odor with high levels of methanethiol and dimethylsulfide in oral and nasal breath due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide and dimethylsulfone in blood, cerebrospinal fluid (CSF) and urine. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5927141000052115 autosomalt recessiv extraoral halitos sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive extra-oral halitosis Is a Disorder of sulphur-bearing amino acid metabolism true Inferred relationship Some
Autosomal recessive extra-oral halitosis Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive extra-oral halitosis Is a Inborn error of metabolism true Inferred relationship Some
Autosomal recessive extra-oral halitosis Occurrence Congenital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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