SNOMED CT

Last uploaded: August 28, 2024
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Preferred Name

Menkes kinky-hair syndrome
Synonyms

X-linked copper deficiency

Congenital hypocupraemia

MK - Menkes syndrome

Copper transport disease

Menkes syndrome

Congenital hypocupremia

MNK - Menkes syndrome

Kinky hair disease

Menkes disease

Steely hair syndrome

Trichopoliodystrophy

Menke's kinky hair syndrome

Menkes kinky-hair syndrome (disorder)

Steely hair disease
ID

http://purl.bioontology.org/ontology/SNOMEDCT/59178007
Active

1
altLabel

X-linked copper deficiency

Congenital hypocupraemia

MK - Menkes syndrome

Copper transport disease

Menkes syndrome

Congenital hypocupremia

MNK - Menkes syndrome

Kinky hair disease

Menkes disease

Steely hair syndrome

Trichopoliodystrophy

Menke's kinky hair syndrome

Menkes kinky-hair syndrome (disorder)

Steely hair disease
CASE SIGNIFICANCE ID

900000000000020002

900000000000448009

900000000000017005
CTV3ID

PKy92
cui

C0022716
DEFINITION STATUS ID

900000000000074008
Effective time

20020131
Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/25723000

http://purl.bioontology.org/ontology/SNOMEDCT/107669003
Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/272673000

http://purl.bioontology.org/ontology/SNOMEDCT/25087005

http://purl.bioontology.org/ontology/SNOMEDCT/386045008
Has interpretation

http://purl.bioontology.org/ontology/SNOMEDCT/281300000
Has pathological process

http://purl.bioontology.org/ontology/SNOMEDCT/308490002
interprets

http://purl.bioontology.org/ontology/SNOMEDCT/312681000
notation

59178007
Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007
prefLabel

Menkes kinky-hair syndrome
Subset member

447562003~MAPRULE~TRUE

900000000000497000~MAPTARGET~PKy92

6011000124106~MAPTARGET~E83.09

447562003~MAPADVICE~ALWAYS E83.0

6011000124106~MAPGROUP~1

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

447562003~MAPTARGET~E83.0

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

6011000124106~MAPRULE~TRUE

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPADVICE~ALWAYS E83.09
tui

T047
Type ID

900000000000003001

900000000000013009
subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/363070008

http://purl.bioontology.org/ontology/SNOMEDCT/363235000

http://purl.bioontology.org/ontology/SNOMEDCT/279425004

http://purl.bioontology.org/ontology/SNOMEDCT/79886009

http://purl.bioontology.org/ontology/SNOMEDCT/362975008

http://purl.bioontology.org/ontology/SNOMEDCT/363185004

http://purl.bioontology.org/ontology/SNOMEDCT/50279003

http://purl.bioontology.org/ontology/SNOMEDCT/238846003

http://purl.bioontology.org/ontology/SNOMEDCT/363212003

http://purl.bioontology.org/ontology/SNOMEDCT/1162976004

http://purl.bioontology.org/ontology/SNOMEDCT/230226000

http://purl.bioontology.org/ontology/SNOMEDCT/254104009
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10027293 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10027292 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D007706 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10027294 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/59178007 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10023452 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10023452 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/PKy92 RCD CUI
http://purl.bioontology.org/ontology/SNMI/D6-32110 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10027293 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001757 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/309400 OMIM CUI
http://purl.bioontology.org/ontology/CSP/1849-5365 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10027292 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10027294 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10027293 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10023452 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10027292 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/300011 OMIM CUI
http://purl.bioontology.org/ontology/MESH/D007706 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10027294 MDRFRE CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.540 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7116 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10027293 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.618.590 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D007706 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.455.687 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.618.590 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1838 NATPRO LOOM
http://purl.obolibrary.org/obo/OMIT_0008810 OMIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038502 PMAPP-PMO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Menkes_Kinky-Hair_Syndrome PEDTERM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.540 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D6-32110 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.540 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.500.687 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15005 DERMLEX LOOM
http://purl.jp/bio/4/id/200906058189154784 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.329.968 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D007706 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.520 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_1838 CLO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.540 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.540 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10027292 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.525.687 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D007706 MESH LOOM
http://www.gamuts.net/entity#Menkes_disease GAMUTS REST