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711159002: Histiocytosis-lymphadenopathy plus syndrome (disorder)

  • SNOMED CT Concept\Clinical finding (finding)\...
    • \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
    • \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
    • \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
    • \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
    • \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
    • \Integumentary system finding\Skin finding\Disorder of skin (disorder)\A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
    • \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
    • \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
    • \Disease\Disorder of hematopoietic cell proliferation (disorder)\Histiocytic syndrome\A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
    • \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
    • \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
    • \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
    • \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.

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
5449906012 A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5449907015 A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. en Definition Active Entire term case sensitive (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 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
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
A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. Is a Histiocytic syndrome true Inferred relationship Some
A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. Associated morphology Histiocytic proliferation - category false Inferred relationship Some 1
A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. Is a Hereditary disorder of the integument true Inferred relationship Some
A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. Is a Disorder of skin (disorder) true Inferred relationship Some
A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. Finding site Skin structure true Inferred relationship Some 2
A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. Associated morphology Histiocytic proliferation (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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