SNOMED Clinical Terms - Achondroplasia - Terms

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Preferred Name	Achondroplasia
Synonyms	Chondrodystrophia fetalis Congenital osteosclerosis Achondroplastic dwarf Achondroplastic dwarfism Achondroplasia (disorder) Osteosclerosis congenita Chondrodystrophia foetalis
ID	86268005
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/86268005
CONCEPTSTATUS	0
CTV3ID	XE1M7
has_associated_morphology	Growth alteration Congenital dysplasia
has_clinical_course	Courses
has_finding_site	Structure of epiphysis Bone structure
has_severity	Severities
inverse_may_be_a	Constitutional short stature Dwarfism (Achondroplasia) or (chondrodystrophy) or (osteochondroma - multiple, congenital) Achondroplastic physique
isa	Disorder of epiphysis Achondrogenesis Defects of the tubular (and flat) bones and/or axial skeleton Short stature disorder
ISPRIMITIVE	1
occurs_in	Congenital
same_as	Achondroplasia
Semantic_Type	Disease or Syndrome Congenital Abnormality
SNOMEDID	D4-00A16
SYNONYM FN	Achondroplasia (disorder)
SYNONYM IS	Chondrodystrophia foetalis
SYNONYM SY	Chondrodystrophia fetalis Congenital osteosclerosis Achondroplastic dwarf Achondroplastic dwarfism Osteosclerosis congenita
TUI	T019 T047
UMLS_CUI	C0001080

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.bioontology.org/ontology/ICPC2P/L82001	ICPC-2 PLUS	NLM UMLS (CUI)	CUI: C0001080	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/CSP/2715-2940	CRISP Thesaurus, 2006	NLM UMLS (CUI)	CUI: C0001080	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MDR/10000452	MedDRA	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/ICD10/Q77.4	ICD10	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/XE1M7	Read Codes, Clinical Terms Version 3 (CTV3)	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/CST/CHONDRODYST	Coding Symbols for a Thesaurus of Adverse Reaction Terms	NLM UMLS (CUI)	CUI: C0001080	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MEDLINEPLUS/T1244	MedlinePlus Health Topics	NLM UMLS (CUI)	CUI: C0001080	skos:closeMatch	loom	04/02/13	View Notes
http://www.co-ode.org/ontologies/galen#Achondroplasia	Galen	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.obolibrary.org/obo/DOID_4480	Human disease ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/CSP/1849-0171	CRISP Thesaurus, 2006	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://www.orphanet.org/rdfns#pat_id_148	Experimental Factor Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/ICD10/Q77.4	ICD10	NLM UMLS (CUI)	CUI: C0001080	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MEDLINEPLUS/T1244	MedlinePlus Health Topics	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/ICPC2P/L82001	ICPC-2 PLUS	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/CST/CHONDRODYST	Coding Symbols for a Thesaurus of Adverse Reaction Terms	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/X76BI	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0001080	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/CSP/1849-0171	CRISP Thesaurus, 2006	NLM UMLS (CUI)	CUI: C0001080	skos:closeMatch	loom	04/02/13	View Notes
http://uwhealth.org/himc/icd/icd09/#756.4	ICD09	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C05.116.099.708.017	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MDR/10000453	MedDRA	NLM UMLS (CUI)	CUI: C0001080	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MSH/D000130	Medical Subject Headings (MeSH)	NLM UMLS (CUI)	CUI: C0001080	skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#D000130	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/ICD10CM/Q77.4	ICD10CM	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.org/skeletome/bonedysplasia#Achondroplasia	Bone Dysplasia Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://www.orphanet.org/rdfns#pat_id_148	Orphanet Ontology of Rare Diseases	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://bioontology.org/projects/ontologies/radlex/radlexOwlDlComponent#RID34620	RadLex	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/OMIM/100800	Online Mendelian Inheritance in Man	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.obolibrary.org/obo/DOID_4480	Neuroscience Information Framework Standard ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C05.116.099.343.110	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C531599	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.obolibrary.org/obo/DOID_4480	NIF Dysfunction	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/OMIM/100800	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0001080	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MDR/10000452	MedDRA	NLM UMLS (CUI)	CUI: C0001080	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000000281	National Drug File	NLM UMLS (CUI)	CUI: C0001080	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/XE1M7	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0001080	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MSH/C531599	Medical Subject Headings (MeSH)	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MDR/10000453	MedDRA	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://www.owl-ontologies.com/NPOntology.owl#DOID_4480	Natural Products Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achondroplasia	NCI Thesaurus	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MSH/D000130	Medical Subject Headings (MeSH)	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000000281	National Drug File	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C16.320.240.500	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/ICD10CM/Q77.4	ICD10CM	NLM UMLS (CUI)	CUI: C0001080	skos:closeMatch	loom	04/02/13	View Notes

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