SNOMED Clinical Terms - Deficiency of steroid 17-alpha-monooxygenase - Terms

Preferred Name	Deficiency of steroid 17-alpha-monooxygenase
Synonyms	17 alpha-Hydroxylase deficiency Congenital adrenal hyperplasia, type 5 CAH - 17-alpha-hydroxysteroid dehydrogenase deficiency CAH - 17-hydroxylase deficiency Deficiency of steroid 17-alpha-hydroxylase Deficiency of steroid 17-alpha-monooxygenase (disorder) Adrenogenital disorder due to 17-alpha-hydroxylase deficiency Steroid 17-alpha-monooxygenase deficiency
ID	124220008
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/124220008
CONCEPTSTATUS	0
CTV3ID	C1526
has_associated_morphology	Hyperplasia
has_clinical_course	Courses
has_finding_site	Adrenal cortex structure
has_severity	Severities
isa	Congenital adrenal hyperplasia Specific enzyme deficiency
ISPRIMITIVE	1
occurs_in	Congenital
replaces	Steroid 17-alpha-monooxygenase deficiency
Semantic_Type	Disease or Syndrome
SNOMEDID	F-67482
SYNONYM FN	Deficiency of steroid 17-alpha-monooxygenase (disorder)
SYNONYM SY	17 alpha-Hydroxylase deficiency Congenital adrenal hyperplasia, type 5 CAH - 17-alpha-hydroxysteroid dehydrogenase deficiency CAH - 17-hydroxylase deficiency Deficiency of steroid 17-alpha-hydroxylase Adrenogenital disorder due to 17-alpha-hydroxylase deficiency Steroid 17-alpha-monooxygenase deficiency
TUI	T047
UMLS_CUI	C0268285

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.bioontology.org/ontology/MDR/10000014	MedDRA	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MSH/C538237	Medical Subject Headings (MeSH)	NLM UMLS (CUI)	CUI: C0268285	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MDR/10000014	MedDRA	NLM UMLS (CUI)	CUI: C0268285	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/C1526	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0268285	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/OMIM/202110	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0268285	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/C1526	Read Codes, Clinical Terms Version 3 (CTV3)	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes

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