SNOMED CT

Last uploaded: January 31, 2024
Preferred Name

Focal dermal hypoplasia

Synonyms

Goltz-Gorlin syndrome

ID

http://purl.bioontology.org/ontology/SNOMEDCT/205573006

Active

1

altLabel

Goltz-Gorlin syndrome

Goltz syndrome

FDH - Focal dermal hypoplasia

Focal dermal hypoplasia (disorder)

FODH - Focal dermal hypoplasia

CASE SIGNIFICANCE ID

900000000000448009

900000000000017005

CTV3ID

PH334

cui

C0016395

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/49755003

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/39937001

Has pathological process

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

notation

205573006

Occurs in

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

prefLabel

Focal dermal hypoplasia

Subset member

900000000000497000~MAPTARGET~PH334

447562003~MAPRULE~TRUE

6011000124106~MAPGROUP~1

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPGROUP~1

6011000124106~MAPTARGET~Q82.8

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPTARGET~Q82.8

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

447562003~MAPADVICE~ALWAYS Q82.8

6011000124106~MAPPRIORITY~1

6011000124106~MAPADVICE~ALWAYS Q82.8

6011000124106~CORRELATIONID~447561005

6011000124106~MAPRULE~TRUE

900000000000509007~ACCEPTABILITYID~900000000000549004

tui

T047

Type ID

900000000000003001

900000000000013009

subClassOf

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

http://purl.bioontology.org/ontology/SNOMEDCT/1162984000

http://purl.bioontology.org/ontology/SNOMEDCT/82354003

http://purl.bioontology.org/ontology/SNOMEDCT/199879009

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

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D005489 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/0726-8244 CRISP CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001264 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/X50Kk RCD CUI
http://purl.bioontology.org/ontology/OMIM/300651 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/305600 OMIM CUI
http://purl.bioontology.org/ontology/MESH/D005489 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/205573006 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D4-01054 SNMI CUI
http://purl.obolibrary.org/obo/MONDO_0010592 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010592 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_2120 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.250.424 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_2092 ORDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Focal_Dermal_Hypoplasia CSEO LOOM
http://purl.bioontology.org/ontology/RCTV2/PH33400 RCTV2 LOOM
http://id.nlm.nih.gov/mesh/D005489 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.370.380 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039334 PMAPP-PMO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14668 DERMLEX LOOM
http://purl.obolibrary.org/obo/NCIT_C84715 BERO LOOM
http://purl.obolibrary.org/obo/MONDO_0010592 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.350.424 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84715 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.350.424 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.186 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005489 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.350.424 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/305600 OMIM LOOM
http://purl.obolibrary.org/obo/DERMO_0000363 DERMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.250.424 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2004 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D005489 MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2120 NATPRO LOOM
http://purl.jp/bio/4/id/200906064292554740 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0006696 OMIT LOOM
http://purl.obolibrary.org/obo/OMIM_305600 CCO LOOM
http://identifiers.org/omim/305600 REXO LOOM
http://identifiers.org/omim/305600 GEXO LOOM
http://identifiers.org/omim/305600 RETO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#5143 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_2120 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2120 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2120 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2120 FNS-H LOOM