SNOMED Clinical Terms - Congenital end-plate acetylcholinesterase deficiency - Terms

Preferred Name	Congenital end-plate acetylcholinesterase deficiency
Synonyms	Congenital end-plate acetylcholinesterase deficiency (disorder)
ID	230677000
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/230677000
CONCEPTSTATUS	0
CTV3ID	X00Cj
due_to	Hypersensitivity reaction
has_clinical_course	Courses
has_definitional_manifestation	Immune system finding
has_finding_site	Skeletal muscle structure
has_pathological_process	Autoimmune
has_severity	Severities
isa	Congenital disease Deficiency of acetylcholinesterase Genetically determined myasthenia
ISPRIMITIVE	1
occurs_in	Congenital
Semantic_Type	Disease or Syndrome
SNOMEDID	DA-5010C
SYNONYM FN	Congenital end-plate acetylcholinesterase deficiency (disorder)
TUI	T047
UMLS_CUI	C0393936

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.bioontology.org/ontology/RCD/X00Cj	Read Codes, Clinical Terms Version 3 (CTV3)	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/X00Cj	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0393936	skos:closeMatch	loom	04/02/13	View Notes

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