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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/716096005
http://purl.bioontology.org/ontology/SNOMEDCT/716096005
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|---|---|
| Preferred Name | Goldblatt Wallis syndrome |
| Definitions |
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and with features of hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterised by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.
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| Synonyms |
Hypospadias and intellectual disability syndrome Goldblatt type
Hypospadias and intellectual disability syndrome Goldblatt type (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and with features of hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterised by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails. A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails. |
|---|---|
| altLabel |
Hypospadias and intellectual disability syndrome Goldblatt type
Hypospadias and intellectual disability syndrome Goldblatt type (disorder)
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| prefLabel | Goldblatt Wallis syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000020002
900000000000017005
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| notation | 716096005
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| Effective time | 20160731
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| Active | 1
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| Has finding site | |
| interprets | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~F78.A9
6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPADVICE~ALWAYS Q54.9
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
6011000124106~MAPTARGET~F79
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
900000000000497000~MAPTARGET~XUtMb
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
6011000124106~MAPTARGET~Q54.9
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUtMb
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| Occurs in | |
| cui | C4274844
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| Has associated morphology |
| Delete | Subject | Author | Type | Created |
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| No notes to display |