9311003: Hermansky-Pudlak syndrome (disorder)

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\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Hermansky-Pudlak syndrome
\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\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Hermansky-Pudlak syndrome
\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\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Hermansky-Pudlak syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Hermansky-Pudlak syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Hermansky-Pudlak syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Hermansky-Pudlak syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Hermansky-Pudlak syndrome

\constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...

\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome

\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\constatation fonctionnelle\Disorder of haemostatic system\Platelet disorder\...

\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome

\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hermansky-Pudlak syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Hermansky-Pudlak syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hermansky-Pudlak syndrome	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	true	Inferred relationship	Some	2
Hermansky-Pudlak syndrome	morphologie associée (attribut)	Hypopigmentation	false	Inferred relationship	Some	2
Hermansky-Pudlak syndrome	morphologie associée (attribut)	Hypopigmentation	false	Inferred relationship	Some	1
Hermansky-Pudlak syndrome	interprète (attribut)	Hemostatic function (observable entity)	true	Inferred relationship	Some	3
Hermansky-Pudlak syndrome	a pour interprétation (attribut)	anormal	false	Inferred relationship	Some	3
Hermansky-Pudlak syndrome	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	3
Hermansky-Pudlak syndrome	est un(e) (attribut)	Multisystem disorder (disorder)	false	Inferred relationship	Some
Hermansky-Pudlak syndrome	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Hermansky-Pudlak syndrome	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Hermansky-Pudlak syndrome	est défini par la manifestation de (attribut)	constatation à propos des plaquettes	false	Inferred relationship	Some
Hermansky-Pudlak syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Hermansky-Pudlak syndrome	Due to	Disorder of tyrosine metabolism (disorder)	false	Inferred relationship	Some
Hermansky-Pudlak syndrome	morphologie associée (attribut)	Decreased melanin pigmentation	false	Inferred relationship	Some	1
Hermansky-Pudlak syndrome	est défini par la manifestation de (attribut)	constatation sur le système hémostatique	false	Inferred relationship	Some
Hermansky-Pudlak syndrome	est un(e) (attribut)	anomalie congénitale du système hématopoïétique	false	Inferred relationship	Some
Hermansky-Pudlak syndrome	est un(e) (attribut)	Multisystem disorder G-H (navigational concept)	false	Inferred relationship	Some
Hermansky-Pudlak syndrome	est un(e) (attribut)	Dense body defect	true	Inferred relationship	Some
Hermansky-Pudlak syndrome	est un(e) (attribut)	albinisme oculo-cutané type 2 (trouble)	true	Inferred relationship	Some
Hermansky-Pudlak syndrome	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1
Hermansky-Pudlak syndrome	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Hermansky-Pudlak syndrome	morphologie associée (attribut)	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Hermansky-Pudlak syndrome	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	1
Hermansky-Pudlak syndrome	est un(e) (attribut)	troubles héréditaires des éléments figurés du sang	false	Inferred relationship	Some
Hermansky-Pudlak syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Hermansky-Pudlak syndrome	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	2
Hermansky-Pudlak syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Hermansky-Pudlak syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Hermansky-Pudlak syndrome	morphologie associée (attribut)	Decreased melanin pigmentation	false	Inferred relationship	Some	3
Hermansky-Pudlak syndrome	morphologie associée (attribut)	Decreased melanin pigmentation	true	Inferred relationship	Some	2
Hermansky-Pudlak syndrome	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	2
Hermansky-Pudlak syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
Hermansky-Pudlak syndrome	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Hermansky-Pudlak syndrome	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some	2
Hermansky-Pudlak syndrome	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	1
Hermansky-Pudlak syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Hermansky-Pudlak syndrome	morphologie associée (attribut)	Congenital deficiency	false	Inferred relationship	Some
Hermansky-Pudlak syndrome	localisation d'une constatation (attribut)	Platelet (cell structure)	false	Inferred relationship	Some
Hermansky-Pudlak syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pulmonary fibrosis due to Hermansky-Pudlak syndrome (disorder)	Due to	True	Hermansky-Pudlak syndrome	Inferred relationship	Some	1

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1018441000172116	SHP - syndrome de Hermansky-Pudlak	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
16343015	Hermansky-Pudlak syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
16344014	Albinism with hemorrhagic diathesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
16345010	Alpha storage pool disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3037196011	Hermansky Pudlak syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
510207013	Albinism with haemorrhagic diathesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
66011000077115	syndrome d'Hermansky-Pudlak	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
688141000077114	syndrome d'Hermansky-Pudlak (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
836776015	Hermansky-Pudlak syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
892331000172119	syndrome de Hermansky-Pudlak	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)