Concept information
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Congenital disease
Congenital malformation
Congenital malformation syndrome (disorder)
Multiple system malformation syndrome
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developmental disorder
Congenital malformation
Congenital malformation syndrome (disorder)
Multiple system malformation syndrome
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Disease of skin
Skin lesion
Anomalous pigmentation of skin
Genetic disorder of skin pigmentation (disorder)
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Disease of skin
Skin lesion
Anomalous pigmentation of skin
Genetic disorder of skin pigmentation (disorder)
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Lesion of skin and/or skin-associated mucous membrane
Skin lesion
Anomalous pigmentation of skin
Genetic disorder of skin pigmentation (disorder)
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disease
Disorder of pigmentation (disorder)
Anomalous pigmentation of skin
Genetic disorder of skin pigmentation (disorder)
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Genetic disease
Hereditary disease
Autosomal hereditary disorder
Recessive hereditary disorder, NOS
Preferred term
Neuroectodermal melanolysosomal disease (disorder)
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Associated morphology
Finding site
Is a
- 205564003
- 363070008
- 363235000
- 49765009
- 88425004
- Genetic disorder of skin pigmentation (disorder)
- Multiple system malformation syndrome
- Neuroectodermal dysplasia
- Recessive hereditary disorder, NOS
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/724091002
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