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711159002: Histiocytosis-lymphadenopathy plus syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3047541012 Histiocytosis-lymphadenopathy plus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3047542017 SLC29A3 spectrum disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3994446016 H syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3047540013 Histiocytosis-lymphadenopathy plus syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3047540013 Histiocytosis-lymphadenopathy plus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3047541012 Histiocytosis-lymphadenopathy plus syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3047541012 Histiocytosis-lymphadenopathy plus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3047542017 SLC29A3 spectrum disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3994446016 H syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3394231001000110 H-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6265721000241110 syndrome histiocytose lymphadénopathie plus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6265731000241112 syndrome H fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6265721000241110 syndrome histiocytose lymphadénopathie plus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6265731000241112 syndrome H fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3394231001000110 H-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Histiocytosis-lymphadenopathy plus syndrome (disorder) Is a Histiocytic syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Histiocytosis-lymphadenopathy plus syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Histiocytosis-lymphadenopathy plus syndrome (disorder) Associated morphology Histiocytic proliferation - category false Inferred relationship Existential restriction modifier (core metadata concept) 1
Histiocytosis-lymphadenopathy plus syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Histiocytosis-lymphadenopathy plus syndrome (disorder) Is a Disorder of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Histiocytosis-lymphadenopathy plus syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Histiocytosis-lymphadenopathy plus syndrome (disorder) Associated morphology Histiocytic proliferation true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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