707276009: syndrome de Hoyeraal-Hreidarsson (trouble)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\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\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\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\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\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\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\Congenital disease\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 soft tissue\lésion de tissu mou\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)\Hoyeraal-Hreidarsson syndrome (disorder)
\Disease\trouble du développement\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

1001631000172119 syndrome de pancytopénie progressive, déficit immunitaire, hypoplasie cérébelleuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

736211000241119 syndrome de Hoyeraal-Hreidarsson (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

951751000172115 syndrome de Hoyeraal-Hreidarsson fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation 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)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hoyeraal-Hreidarsson syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Hoyeraal-Hreidarsson syndrome (disorder)	localisation d'une constatation (attribut)	Ectoderm structure	true	Inferred relationship	Some	2
Hoyeraal-Hreidarsson syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Hoyeraal-Hreidarsson syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Hoyeraal-Hreidarsson syndrome (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
Hoyeraal-Hreidarsson syndrome (disorder)	est un(e) (attribut)	X-linked dyskeratosis congenita (disorder)	true	Inferred relationship	Some
Hoyeraal-Hreidarsson syndrome (disorder)	morphologie associée (attribut)	Dyskeratosis	false	Inferred relationship	Some	2
Hoyeraal-Hreidarsson syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Hoyeraal-Hreidarsson syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Hoyeraal-Hreidarsson syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Hoyeraal-Hreidarsson syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
Hoyeraal-Hreidarsson syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Hoyeraal-Hreidarsson syndrome (disorder)	morphologie associée (attribut)	Dyskeratosis	true	Inferred relationship	Some	1
Hoyeraal-Hreidarsson syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1001631000172119	syndrome de pancytopénie progressive, déficit immunitaire, hypoplasie cérébelleuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
736211000241119	syndrome de Hoyeraal-Hreidarsson (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
951751000172115	syndrome de Hoyeraal-Hreidarsson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation 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