9311003: Hermansky-Pudlak syndrome (disorder)

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 (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...

\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect (disorder)\Hermansky-Pudlak syndrome

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

\Functional finding\Disorder of hemostatic system\Platelet disorder\...

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

\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect (disorder)\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	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome	Is a	Multisystem disorder G-H	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome	Is a	Dense body defect (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome	Is a	Tyrosinase-positive oculocutaneous albinism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hermansky-Pudlak syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hermansky-Pudlak syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hermansky-Pudlak syndrome	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hermansky-Pudlak syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome	Associated morphology	Congenital deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome	Finding site	Platelet (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome	Is a	trouble multisytémique	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hermansky-Pudlak syndrome	Has definitional manifestation	Platelet finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hermansky-Pudlak syndrome	Due to	Disorder of tyrosine metabolism (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hermansky-Pudlak syndrome	Has definitional manifestation	Hemostatic system finding (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hermansky-Pudlak syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hermansky-Pudlak syndrome	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hermansky-Pudlak syndrome	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hermansky-Pudlak syndrome	Is a	Hereditary disorder of cellular element of blood	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hermansky-Pudlak syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hermansky-Pudlak syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hermansky-Pudlak syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hermansky-Pudlak syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hermansky-Pudlak syndrome	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hermansky-Pudlak syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hermansky-Pudlak syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hermansky-Pudlak syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hermansky-Pudlak syndrome	Finding site	Eye structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hermansky-Pudlak syndrome	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hermansky-Pudlak syndrome	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hermansky-Pudlak syndrome	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hermansky-Pudlak syndrome	Has interpretation	Abnormal	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hermansky-Pudlak syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pulmonary fibrosis due to Hermansky-Pudlak syndrome (disorder)	Due to	True	Hermansky-Pudlak syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
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
510207013	Albinism with haemorrhagic diathesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
836776015	Hermansky-Pudlak syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (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
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	Only initial character case insensitive (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	Only initial character 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
510207013	Albinism with haemorrhagic diathesis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (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
836776015	Hermansky-Pudlak syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
836776015	Hermansky-Pudlak syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (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
637721000274112	HPS - Hermansky-Pudlak-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447141001000117	Hermansky-Pudlak-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
66011000077115	syndrome d'Hermansky-Pudlak	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
892331000172119	syndrome de Hermansky-Pudlak	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1018441000172116	SHP - syndrome de Hermansky-Pudlak	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
66011000077115	syndrome d'Hermansky-Pudlak	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
892331000172119	syndrome de Hermansky-Pudlak	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1018441000172116	SHP - syndrome de Hermansky-Pudlak	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
637721000274112	HPS - Hermansky-Pudlak-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447141001000117	Hermansky-Pudlak-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module