Read Codes, Clinical Terms Version 3 (CTV3)

Last uploaded: August 28, 2024

Preferred Name	Phenylalanine hydroxylase deficiency
Synonyms	PAH - Phenylalanine hydroxylase deficiency
ID	http://purl.bioontology.org/ontology/RCD/X40Rb
altLabel	PAH - Phenylalanine hydroxylase deficiency
cui	C0751434
notation	X40Rb
prefLabel	Phenylalanine hydroxylase deficiency
RID	Y41hR Y41hS
tui	T047
subClassOf	http://purl.bioontology.org/ontology/RCD/X40Ra

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MEDDRA/10034875	MEDDRA	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU010141	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/7573000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D010661	MSHFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.0	ICD10CM	CUI
http://purl.bioontology.org/ontology/ICD10/E70.0	ICD10	CUI
http://purl.bioontology.org/ontology/OMIM/261600	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/7573000	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10034875	MDRFRE	CUI
http://purl.bioontology.org/ontology/LNC/LA12520-5	LOINC	CUI
http://purl.bioontology.org/ontology/CSP/1849-1234	CRISP	CUI
http://purl.bioontology.org/ontology/SNMI/D6-A1120	SNMI	CUI
http://purl.bioontology.org/ontology/MESH/D010661	MESH	CUI
http://purl.bioontology.org/ontology/MDRGER/10034875	MDRGER	CUI
http://purl.bioontology.org/ontology/OMIM/612349	OMIM	CUI
http://onstr.googlecode.com/svn/tags/currentRelease/2014-09-03/ONSTR.owl#ONSTR_0128089	ONSTR	LOOM
http://nanbyodata.jp/ontology/NANDO_1200785	NANDO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU010141	OMIM	LOOM
http://nanbyodata.jp/ontology/NANDO_2201075	NANDO	LOOM