707276009: Hoyeraal-Hreidarsson syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Hoyeraal-Hreidarsson syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2015. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3029462013 Hoyeraal-Hreidarsson syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3029606019 Hoyeraal-Hreidarsson syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hoyeraal-Hreidarsson syndrome	Is a	X-linked dyskeratosis congenita	true	Inferred relationship	Existential restriction modifier
Hoyeraal-Hreidarsson syndrome	Associated morphology	Dyskeratosis	false	Inferred relationship	Existential restriction modifier	2
Hoyeraal-Hreidarsson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Hoyeraal-Hreidarsson syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Hoyeraal-Hreidarsson syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Hoyeraal-Hreidarsson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Hoyeraal-Hreidarsson syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Hoyeraal-Hreidarsson syndrome	Associated morphology	Dyskeratosis	true	Inferred relationship	Existential restriction modifier	1
Hoyeraal-Hreidarsson syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
Hoyeraal-Hreidarsson syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Hoyeraal-Hreidarsson syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Hoyeraal-Hreidarsson syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier	2
Hoyeraal-Hreidarsson syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Hoyeraal-Hreidarsson syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Hoyeraal-Hreidarsson syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3029462013	Hoyeraal-Hreidarsson syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3029606019	Hoyeraal-Hreidarsson syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module