711159002: Histiocytosis-lymphadenopathy plus syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Histiocytosis-lymphadenopathy plus syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Histiocytosis-lymphadenopathy plus syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Histiocytosis-lymphadenopathy plus syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Histiocytosis-lymphadenopathy plus syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Histiocytosis-lymphadenopathy plus syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Histiocytosis-lymphadenopathy plus syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Histiocytosis-lymphadenopathy plus syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Histiocytosis-lymphadenopathy plus syndrome
• \Disease\Disorder of haematopoietic morphology\Histiocytosis\Histiocytosis-lymphadenopathy plus syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Histiocytosis-lymphadenopathy plus syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Histiocytosis-lymphadenopathy plus syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Histiocytosis-lymphadenopathy plus syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Histiocytosis-lymphadenopathy plus syndrome

Status: current, Primitive. Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3047540013	Histiocytosis-lymphadenopathy plus syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3047541012	Histiocytosis-lymphadenopathy plus syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3047542017	SLC29A3 spectrum disorder	en	Synonym	Active	Case sensitive	SNOMED CT core
3994446016	H syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3994445017	A rare cutaneous disease and a systemic inherited histiocytosis with main characteristics of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. The syndrome becomes clinically apparent mostly during childhood, but cases during infancy and late-onset cases have been reported too. Caused by mutations in SLC29A3 (10q22.2) (encoding a nucleoside transporter, hENT3), which result in defective nucleoside transport functions of hENT3. This leads to histiocytic infiltration of numerous organs. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3994447013	A rare cutaneous disease and a systemic inherited histiocytosis with main characteristics of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. The syndrome becomes clinically apparent mostly during childhood, but cases during infancy and late-onset cases have been reported too. Caused by mutations in SLC29A3 (10q22.2) (encoding a nucleoside transporter, hENT3), which result in defective nucleoside transport functions of hENT3. This leads to histiocytic infiltration of numerous organs. Transmission is autosomal recessive.	en	Definition	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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