Preferred Name

Albinism
Synonyms

Albinism (disorder)

Albinismus

Albinism, NOS

Albinismus, NOS
ID

15890002
Full Id

http://purl.bioontology.org/ontology/SNOMEDCT/15890002
CONCEPTSTATUS

0
CTV3ID

XE117
has_associated_morphology

Congenital hypopigmentation

Decreased melanin pigmentation
has_clinical_course

Courses
has_severity

Severities
inverse_may_be_a

Disorder of amino acid metabolism: [other aromatic] or [albinism]

Albinism (& [Klein-Waardenberg's syndrome])

(Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosemia) or (glycogen storage disease) or (Von Gierke's disease)

(Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosemia) or (glycogen storage disease) or (Von Gierke's disease)
isa

Inborn error of metabolism

Congenital anomaly

Disorder of pigmentation
ISPRIMITIVE

1
occurs_in

Congenital
Semantic_Type

Congenital Abnormality
SNOMEDID

D6-A2400
SYNONYM FN

Albinism (disorder)
SYNONYM IS

Albinism, NOS

Albinismus, NOS
SYNONYM SY

Albinismus
TUI

T019
UMLS_CUI

C0001916
Create New Mapping

Mapping To Ontology Source Comment Relationship Added By Added On Notes
http://uwhealth.org/himc/icd/icd09/#270.2 ICD09 NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000000348 National Drug File NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/RCD/XE117 Read Codes, Clinical Terms Version 3 (CTV3) NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://www.co-ode.org/ontologies/galen#Albinism Galen NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/RCD/XE117 Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0001916 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICD10/E70.3 ICD10 NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MSH/D000417 Medical Subject Headings (MeSH) NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICD10CM/E70.3 ICD10CM NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MSH/D000417 Medical Subject Headings (MeSH) NLM UMLS (CUI) CUI: C0001916 skos:closeMatch loom 05/21/13 View Notes
http://bioonto.de/mesh.owl#C17.800.827.080 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MDR/10001557 MedDRA NLM UMLS (CUI) CUI: C0001916 skos:closeMatch loom 05/21/13 View Notes
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:2074 Fanconi Anemia (FA) Ontology NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://bioonto.de/mesh.owl#D000417 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/OMIM/MTHU014623 Online Mendelian Inheritance in Man NLM UMLS (CUI) CUI: C0001916 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/OMIM/MTHU014623 Online Mendelian Inheritance in Man NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://bioonto.de/mesh.owl#C18.452.648.100.102 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICD10CM/E70.30 ICD10CM NLM UMLS (CUI) CUI: C0001916 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICD10CM/E70.3 ICD10CM NLM UMLS (CUI) CUI: C0001916 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICD10/E70.3 ICD10 NLM UMLS (CUI) CUI: C0001916 skos:closeMatch loom 05/21/13 View Notes
http://bioonto.de/mesh.owl#C16.320.850.080 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/CSP/1849-0399 CRISP Thesaurus, 2006 NLM UMLS (CUI) CUI: C0001916 skos:closeMatch loom 05/21/13 View Notes
http://bioonto.de/mesh.owl#C17.800.621.440.102 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.org/obo/owl/HP#HP_0001022 Bone Dysplasia Ontology NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://bioonto.de/mesh.owl#C11.270.040 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84543 NCI Thesaurus NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MDR/10001557 MedDRA NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://bioonto.de/mesh.owl#C16.320.290.040 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.obolibrary.org/obo/HP_0001022 Human Phenotype Ontology NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000000348 National Drug File NLM UMLS (CUI) CUI: C0001916 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICPC2P/A90014 ICPC-2 PLUS NLM UMLS (CUI) CUI: C0001916 skos:closeMatch loom 05/21/13 View Notes
http://bioonto.de/mesh.owl#C16.320.565.100.102 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/CSP/1849-0399 CRISP Thesaurus, 2006 NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Albinism RAPID Phenotype Ontology NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes

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