4434006: Bloom syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\Bloom syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\Bloom syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Bloom syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Bloom syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\Bloom syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, small stature, without skeletal dysplasia\Bloom syndrome
• \Disease\Congenital disease\Congenital immunodeficiency disease\Bloom syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\Bloom syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, small stature, without skeletal dysplasia\Bloom syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\Bloom syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1230086015	BS - Bloom syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
7533010	Bloom syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
7534016	Congenital telangiectatic erythema syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
781458010	Bloom syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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