Hermansky-Pudlak syndrome 9311003

SNOMED CT code

SNOMED code

9311003

name

Hermansky-Pudlak syndrome

status

active

date introduced

2002-01-31

fully specified name(s)

Hermansky-Pudlak syndrome (disorder)

synonyms

Hermansky-Pudlak syndrome
Albinism with hemorrhagic diathesis
Alpha storage pool disease
Hermansky Pudlak syndrome
Albinism with haemorrhagic diathesis

attributes - group2

Pathological process

Pathological developmental process 308490002

Finding site

Eye structure 81745001

Occurrence

Congenital 255399007

Associated morphology

Decreased melanin pigmentation 37257004

attributes - group1

Pathological process

Pathological developmental process 308490002

Finding site

Skin structure 39937001

Associated morphology

Decreased melanin pigmentation 37257004

Occurrence

Congenital 255399007

attributes - group3

Interprets

Hemostatic function 74848003

Has interpretation

Abnormal 263654008

parents

Dense body defect 234474009
Tyrosinase-positive oculocutaneous albinism 26336006

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Platelet storage pool defect 128099001
Dense body defect 234474009
Hermansky-Pudlak syndrome 9311003

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Hereditary disorder of the integument 363185004
Oculocutaneous albinism 63844009
Tyrosinase-positive oculocutaneous albinism 26336006
Hermansky-Pudlak syndrome 9311003

ancestors

sorted most to least specific

Dense body defect 234474009
Tyrosinase-positive oculocutaneous albinism 26336006
Platelet storage pool defect 128099001
Oculocutaneous albinism 63844009
Hereditary platelet function disorder 128096008
Albinism 15890002
Hereditary disorder of the integument 363185004
Hereditary disorder of the visual system 363343008
Congenital oculocutaneous hypopigmentation 61649007
Genetic disorder of skin pigmentation 724839001
Autosomal recessive hereditary disorder 85995004
Inherited platelet disorder 234469001
Qualitative platelet disorder 267532001
Congenital anomaly of eye 19416009
Autosomal hereditary disorder 1899006
Developmental hereditary disorder 363070008
Inborn error of metabolism 86095007
Congenital deficiency of pigment of skin 1953005
Lesion of eye 301905003
Platelet disorder 22716005
Hereditary disorder of cellular element of blood 414393003
Anomaly of eye 11131000119108
Hereditary metabolic disease 1821000146108
Congenital pigmentary skin anomalies 205564003
Congenital anomaly of visual system 127329003
Congenital anomaly of head 87290003
Skin hypopigmented 23006000
Disorder of hemostatic system 362970003
Hereditary disorder by system 363137000
Disorder of cellular component of blood 414022008
Disorder of eye 371405004
Disorder of skin pigmentation 46690002
Congenital anomaly of skin 199879009
Metabolic disease 75934005
Functional finding 118228005
Hereditary disease 32895009
Finding of blood, lymphatics and immune system 299691001
Disorder of sensory organ 1279550006
Disorder of pigmentation 414032001
Congenital anomaly of integument 38164009
Globe finding 246915008
Disorder of eye region 371409005
Skin lesion 95324001
Congenital malformation 276654001
Genetic disease 782964007
Visual system disorder 128127008
Disorder of head 118934005
Soft tissue lesion 239953001
Disorder of skin 95320005
Finding of head region 298364001
Lesion of skin and/or skin-associated mucous membrane 714974000
Developmental disorder 5294002
Congenital disease 66091009
Eye / vision finding 118235002
Head finding 406122000
Skin finding 106076001
Skin or mucosa lesion 247440002
Disorder of skin and/or subcutaneous tissue 80659006
Disorder of integument 128598002
Finding of head and neck region 118254002
Disorder of soft tissue 19660004
Skin AND/OR mucosa finding 415531008
Integumentary system finding 106077005
Disorder of body system 362965005
General finding of soft tissue 248402002
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Congenital disease 66091009

Platelet storage pool defect 128099001

Dense body defect 234474009

Hermansky-Pudlak syndrome 9311003

SNOMED CT code