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SNOMED CT

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/SNOMEDCT/716192009
http://purl.bioontology.org/ontology/SNOMEDCT/716192009
Preferred Name

Thong Douglas Ferrante syndrome
Definitions
This syndrome has characteristics of short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). It has been described in two siblings.
Synonyms
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

This syndrome has characteristics of short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). It has been described in two siblings.
altLabel
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
prefLabel
Thong Douglas Ferrante syndrome
Type ID
900000000000003001
900000000000013009
CASE SIGNIFICANCE ID
900000000000448009
900000000000017005
notation
716192009
Effective time
20160731
Active
1
Has finding site
interprets
Has pathological process
subClassOf
Semantic type UMLS property
type
Subset member
6011000124106~MAPADVICE~ALWAYS Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS Q18.9
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPTARGET~Q87.1
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~Q87.19
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
447562003~MAPTARGET~Q87.1
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~Q18.9
900000000000497000~MAPTARGET~XUtMe
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS D72.9
6011000124106~MAPGROUP~4
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS Q87.1
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~D72.9
6011000124106~MAPTARGET~H90.5
6011000124106~MAPADVICE~ALWAYS H90.5
6011000124106~MAPADVICE~ALWAYS Q87.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
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DEFINITION STATUS ID
900000000000074008
tui
T047
CTV3ID
XUtMe
Occurs in
cui
C4274785
Has associated morphology
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