SNOMED Clinical Terms - Deficiency of methylmalonyl-CoA mutase

Preferred Name	Deficiency of methylmalonyl-CoA mutase
Synonyms	Deficiency of methylmalonyl-CoA mutase (disorder)
ID	124680001
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/124680001
CONCEPTSTATUS	0
CTV3ID	XU6H0
has_clinical_course	Courses
has_severity	Severities
isa	Specific enzyme deficiency Inborn error of metabolism Autosomal recessive hereditary disorder Disorder of propionate AND/OR methylmalonate metabolism
ISPRIMITIVE	1
occurs_in	Congenital
same_as	Methylmalonyl-CoA mutase deficiency
Semantic_Type	Disease or Syndrome
SNOMEDID	F-6D422
SYNONYM FN	Deficiency of methylmalonyl-CoA mutase (disorder)
TUI	T047
UMLS_CUI	C0268584

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.bioontology.org/ontology/RCD/X40St	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0268584	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/OMIM/MTHU011507	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0268584	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/CSP/1849-1120	CRISP Thesaurus, 2006	NLM UMLS (CUI)	CUI: C0268584	skos:closeMatch	loom	04/02/13	View Notes

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