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1230005002: Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder)


Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5066165018 Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
5066166017 Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome en Synonym Active Case insensitive SNOMED CT core
5066167014 A rare genetic skin disease with characteristics of infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo and hyperpigmented macules of the trunk and face and areas of reticular hypo and hyperpigmentation of the extremities), palmoplantar keratoderma and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Ectodermal dysplasia with hair-nail defect true Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Congenital alopecia true Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Genetic disorder of nail true Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Hereditary neoplastic syndrome true Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Genetic disorder of skin pigmentation true Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Dystrophia unguium true Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Occurrence Congenital true Inferred relationship Some 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Finding site Ectoderm structure true Inferred relationship Some 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Occurrence Congenital true Inferred relationship Some 4
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Finding site Hair structure true Inferred relationship Some 4
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology Absence true Inferred relationship Some 4
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Occurrence Congenital true Inferred relationship Some 5
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Finding site Nail unit structure true Inferred relationship Some 5
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology Dystrophy true Inferred relationship Some 5
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Finding site Entire skin of palmar area of hand true Inferred relationship Some 2
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 2
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Finding site Entire skin of sole of foot true Inferred relationship Some 3
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 3
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Finding site Skin structure true Inferred relationship Some 6
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology Pigment alteration true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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