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 neoplastic 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 anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita\Hoyeraal-Hreidarsson syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3029462013 Hoyeraal-Hreidarsson syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3029606019 Hoyeraal-Hreidarsson syndrome en Synonym Active Case sensitive SNOMED CT core

3029631018 A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anaemia. en Definition Active Case sensitive SNOMED CT core

3029632013 A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3029462013	Hoyeraal-Hreidarsson syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3029606019	Hoyeraal-Hreidarsson syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3029631018	A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anaemia.	en	Definition	Active	Case sensitive	SNOMED CT core
3029632013	A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.	en	Definition	Active	Case sensitive	SNOMED CT core