9311003: Hermansky-Pudlak syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of blood, lymphatics and immune system\Blood disease\...

\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\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\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\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\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\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\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\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\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\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\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 haemostatic 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\Skin hypopigmented\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\Blood disease\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\Blood disease\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
\Disease\Disorder of haemostatic 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\Skin hypopigmented\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\Skin hypopigmented\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\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\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\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\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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\Skin hypopigmented\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\Skin hypopigmented\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

16343015 Hermansky-Pudlak syndrome en Synonym Active Case sensitive SNOMED CT core

16344014 Albinism with hemorrhagic diathesis en Synonym Active Case insensitive SNOMED CT core

16345010 Alpha storage pool disease en Synonym Active Case insensitive SNOMED CT core

3037196011 Hermansky Pudlak syndrome en Synonym Active Case sensitive SNOMED CT core

510207013 Albinism with haemorrhagic diathesis en Synonym Active Case insensitive SNOMED CT core

836776015 Hermansky-Pudlak syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

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

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
16343015	Hermansky-Pudlak syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
16344014	Albinism with hemorrhagic diathesis	en	Synonym	Active	Case insensitive	SNOMED CT core
16345010	Alpha storage pool disease	en	Synonym	Active	Case insensitive	SNOMED CT core
3037196011	Hermansky Pudlak syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
510207013	Albinism with haemorrhagic diathesis	en	Synonym	Active	Case insensitive	SNOMED CT core
836776015	Hermansky-Pudlak syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core