9311003: Hermansky-Pudlak syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\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\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome

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

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome

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

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

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

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of pigmentation\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
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of pigmentation\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
\Disease\Disorder of cellular component of blood\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
\Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\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
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\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
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Congenital disease\Congenital malformation\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Congenital disease\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
\Disease\Congenital disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\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
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\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
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Developmental disorder\Congenital malformation\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

16343015 Hermansky-Pudlak syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
16344014 Albinism with hemorrhagic diathesis en Synonym Active Entire term case insensitive SNOMED CT core module
16345010 Alpha storage pool disease en Synonym Active Entire term case insensitive SNOMED CT core module
510207013 Albinism with haemorrhagic diathesis en Synonym Active Entire term case insensitive SNOMED CT core module
836776015 Hermansky-Pudlak syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3037196011 Hermansky Pudlak syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hermansky-Pudlak syndrome	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Existential restriction modifier
Hermansky-Pudlak syndrome	Is a	Multisystem disorder G-H	false	Inferred relationship	Existential restriction modifier
Hermansky-Pudlak syndrome	Is a	Dense body defect	true	Inferred relationship	Existential restriction modifier
Hermansky-Pudlak syndrome	Is a	Tyrosinase-positive oculocutaneous albinism	true	Inferred relationship	Existential restriction modifier
Hermansky-Pudlak syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	2
Hermansky-Pudlak syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Hermansky-Pudlak syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Hermansky-Pudlak syndrome	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier	2
Hermansky-Pudlak syndrome	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	1
Hermansky-Pudlak syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Hermansky-Pudlak syndrome	Associated morphology	Congenital deficiency	false	Inferred relationship	Existential restriction modifier
Hermansky-Pudlak syndrome	Finding site	Platelet	false	Inferred relationship	Existential restriction modifier
Hermansky-Pudlak syndrome	Is a	Multisystem disorder	false	Inferred relationship	Existential restriction modifier
Hermansky-Pudlak syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Hermansky-Pudlak syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Hermansky-Pudlak syndrome	Has definitional manifestation	Platelet finding	false	Inferred relationship	Existential restriction modifier
Hermansky-Pudlak syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Hermansky-Pudlak syndrome	Due to	Disorder of tyrosine metabolism	false	Inferred relationship	Existential restriction modifier
Hermansky-Pudlak syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	1
Hermansky-Pudlak syndrome	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Existential restriction modifier
Hermansky-Pudlak syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
Hermansky-Pudlak syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Hermansky-Pudlak syndrome	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier	1
Hermansky-Pudlak syndrome	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	1
Hermansky-Pudlak syndrome	Is a	Hereditary disorder of cellular element of blood	false	Inferred relationship	Existential restriction modifier
Hermansky-Pudlak syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Hermansky-Pudlak syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	2
Hermansky-Pudlak syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Hermansky-Pudlak syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Hermansky-Pudlak syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	3
Hermansky-Pudlak syndrome	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier	2
Hermansky-Pudlak syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Hermansky-Pudlak syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Hermansky-Pudlak syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Hermansky-Pudlak syndrome	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	2
Hermansky-Pudlak syndrome	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier	2
Hermansky-Pudlak syndrome	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Hermansky-Pudlak syndrome	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier	3
Hermansky-Pudlak syndrome	Has interpretation	Abnormal	false	Inferred relationship	Existential restriction modifier	3
Hermansky-Pudlak syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pulmonary fibrosis due to Hermansky-Pudlak syndrome	Due to	True	Hermansky-Pudlak syndrome	Inferred relationship	Existential restriction modifier	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	Active	Entire term case sensitive	SNOMED CT core module
16344014	Albinism with hemorrhagic diathesis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
16345010	Alpha storage pool disease	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
510207013	Albinism with haemorrhagic diathesis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
836776015	Hermansky-Pudlak syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3037196011	Hermansky Pudlak syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module