707276009: syndroom van progressieve pancytopenie, immunodeficiëntie en cerebellaire hypoplasie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3029606019 Hoyeraal-Hreidarsson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6135151000146114 progressieve pancytopenie-immuundeficiëntie-cerebellaire hypoplasie-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6135171000146118 syndroom van Hoyeraal-Hreidarsson nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6675281000146110 syndroom van progressieve pancytopenie, immuundeficiëntie en cerebellaire hypoplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7069131000146117 syndroom van progressieve pancytopenie, immunodeficiëntie en cerebellaire hypoplasie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7069771000146116 syndroom van progressieve pancytopenie, immunodeficiëntie en cerebellaire hypoplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3029462013	Hoyeraal-Hreidarsson syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3029606019	Hoyeraal-Hreidarsson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6135151000146114	progressieve pancytopenie-immuundeficiëntie-cerebellaire hypoplasie-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6135171000146118	syndroom van Hoyeraal-Hreidarsson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6675281000146110	syndroom van progressieve pancytopenie, immuundeficiëntie en cerebellaire hypoplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7069131000146117	syndroom van progressieve pancytopenie, immunodeficiëntie en cerebellaire hypoplasie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7069771000146116	syndroom van progressieve pancytopenie, immunodeficiëntie en cerebellaire hypoplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core