Other specified congenital malformations of skin

Preferred Label : Other specified congenital malformations of skin;

Inclusion CIM-10 : Keratosis follicularis [Darier-White]; Benign familial pemphigus [Hailey-Hailey]; Abnormal palmar creases; Accessory skin tags; Cutis laxa (hyperelastica); Dermatoglyphic anomalies; Congenital poikiloderma; Inherited keratosis palmaris et plantaris;

ICD-10 exclusion note : Ehlers-Danlos syndrome (Q79.6);

Diag associé à un acte (%) : 74.9;

Source : OMS;

Date de début : 01/01/1997;

Détails

Origin ID

Q828;

UMLS CUI

C2363246;

Automatic exact mappings (from CISMeF team)
- Abnormal dermatoglyphic pattern (disorder) [SNOMED CT concept]
- Abnormal palmar creases (disorder) [SNOMED CT concept]
- Abnormality of the palmar creases [HPO term]
- Congenital accessory skin tag (disorder) [SNOMED CT concept]
- Congenital poikiloderma [MedDRA Preferred Term]
- Dermatoglyphic anomaly [MedDRA Preferred Term]
- Erythrokeratodermia variabilis (disorder) [SNOMED CT concept]
- Rothmund-Thomson syndrome [DO Concept]
DO Cross reference
- Hailey-Hailey disease [DO Concept]
- Rothmund-Thomson syndrome [DO Concept]
- autosomal dominant cutis laxa [DO Concept]
- autosomal dominant cutis laxa 1 [DO Concept]
- autosomal dominant cutis laxa 2 [DO Concept]
- autosomal dominant cutis laxa 3 [DO Concept]
- autosomal recessive cutis laxa type IA [DO Concept]
- autosomal recessive cutis laxa type IB [DO Concept]
- autosomal recessive cutis laxa type II classic type [DO Concept]
- autosomal recessive cutis laxa type IIA [DO Concept]
- autosomal recessive cutis laxa type IIB [DO Concept]
- autosomal recessive cutis laxa type IIC [DO Concept]
- autosomal recessive cutis laxa type IID [DO Concept]
- autosomal recessive cutis laxa type IIIA [DO Concept]
- autosomal recessive cutis laxa type IIIB [DO Concept]
- cutis laxa [DO Concept]
- mal de Meleda [DO Concept]
ICD-10 exclusion(s)
- Ehlers-Danlos syndrome [ICD-10 Sub-category]
Orphanet concepts
- Absence of fingerprints-congenital milia syndrome [ORDO Disease]
- Acrokeratoderma [ORDO Disease]
- Acrokeratoelastoidosis of Costa [ORDO Disease]
- Acrokeratosis verruciformis of Hopf [ORDO Disease]
- Acromegaly-cutis verticis gyrata-corneal leukoma syndrome [ORDO Disease]
- Autosomal dominant cutis laxa [ORDO Disease]
- Autosomal dominant diffuse mutilating palmoplantar keratoderma [ORDO Disease]
- Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature [ORDO Disease]
- Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature [ORDO Disease]
- Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering [ORDO Disease]
- Autosomal dominant isolated diffuse palmoplantar keratoderma [ORDO Disease]
- Autosomal dominant palmoplantar keratoderma and congenital alopecia [ORDO Disease]
- Autosomal recessive cutis laxa type 1 [ORDO Disease]
- Autosomal recessive cutis laxa type 2 [ORDO Disease]
- Autosomal recessive cutis laxa type 2, classic type [ORDO Disease]
- Autosomal recessive cutis laxa type 2A [ORDO Disease]
- Autosomal recessive cutis laxa type 2B [ORDO Disease]
- Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature [ORDO Disease]
- Autosomal recessive disease with focal palmoplantar keratoderma as a major feature [ORDO Disease]
- Autosomal recessive isolated diffuse palmoplantar keratoderma [ORDO Disease]
- Autosomal recessive palmoplantar keratoderma and congenital alopecia [ORDO Disease]
- CEDNIK syndrome [ORDO Disease]
- CHAND syndrome [ORDO Disease]
- Choroidal atrophy-alopecia syndrome [ORDO Disease]
- Combined immunodeficiency-enteropathy spectrum [ORDO Disease]
- Congenital lethal erythroderma [ORDO Disease]
- Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [ORDO Disease]
- Curly hair-acral keratoderma-caries syndrome [ORDO Disease]
- Cutis laxa [ORDO Disease]
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies [ORDO Disease]
- Cutis marmorata telangiectatica congenita [ORDO Disease]
- Darier disease [ORDO Disease]
- Dermatoosteolysis, Kirghizian type [ORDO Disease]
- Diffuse neonatal hemangiomatosis [ORDO Disease]
- Diffuse palmoplantar keratoderma [ORDO Disease]
- Diffuse palmoplantar keratoderma with painful fissures [ORDO Disease]
- Diffuse palmoplantar keratoderma-acrocyanosis syndrome [ORDO Disease]
- Disease with diffuse palmoplantar keratoderma as a major feature [ORDO Disease]
- Disease with focal palmoplantar keratoderma as a major feature [ORDO Disease]
- Disseminated superficial actinic porokeratosis [ORDO Disease]
- Dyskeratosis congenita [ORDO Disease]
- Ectodermal dysplasia-cutaneous syndactyly syndrome [ORDO Disease]
- Ectodermal dysplasia-syndactyly syndrome [ORDO Disease]
- Epidermolytic palmoplantar keratoderma [ORDO Disease]
- Erythrokeratoderma ''en cocardes'' [ORDO Disease]
- Erythrokeratoderma variabilis progressiva [ORDO Disease]
- Erythrokeratodermia variabilis [ORDO Disease]
- Familial benign chronic pemphigus [ORDO Disease]
- Focal acral hyperkeratosis [ORDO Disease]
- Focal dermal hypoplasia [ORDO Disease]
- Focal facial dermal dysplasia [ORDO Disease]
- Focal facial dermal dysplasia type I [ORDO Disease]
- Focal facial dermal dysplasia type II [ORDO Disease]
- Focal facial dermal dysplasia type III [ORDO Disease]
- Focal facial dermal dysplasia type IV [ORDO Disease]
- Focal palmoplantar and gingival keratoderma [ORDO Disease]
- Focal palmoplantar keratoderma [ORDO Disease]
- Focal palmoplantar keratoderma with joint keratoses [ORDO Disease]
- Geroderma osteodysplastica [ORDO Disease]
- Haim-Munk syndrome [ORDO Disease]
- Hereditary acrokeratotic poikiloderma [ORDO Disease]
- Hereditary benign intraepithelial dyskeratosis [ORDO Disease]
- Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome [ORDO Disease]
- Hereditary painful callosities [ORDO Disease]
- Hereditary palmoplantar keratoderma [ORDO Disease]
- Hereditary palmoplantar keratoderma, Gamborg-Nielsen type [ORDO Disease]
- Hereditary sclerosing poikiloderma, Weary type [ORDO Disease]
- Hidrotic ectodermal dysplasia [ORDO Disease]
- Hidrotic ectodermal dysplasia, Christianson-Fourie type [ORDO Disease]
- Hidrotic ectodermal dysplasia, Halal type [ORDO Disease]
- Huriez syndrome [ORDO Disease]
- Hyperkeratosis-hyperpigmentation syndrome [ORDO Disease]
- Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome [ORDO Disease]
- Hypopigmentation-punctate palmoplantar keratoderma syndrome [ORDO Disease]
- Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome [ORDO Disease]
- Isolated congenital adermatoglyphia [ORDO Disease]
- Isolated diffuse palmoplantar keratoderma [ORDO Disease]
- Isolated focal palmoplantar keratoderma [ORDO Disease]
- Isolated punctate palmoplantar keratoderma [ORDO Disease]
- Keratoderma hereditarium mutilans [ORDO Disease]
- Keratoderma hereditarium mutilans with ichthyosis [ORDO Disease]
- Keratosis follicularis spinulosa decalvans [ORDO Disease]
- Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome [ORDO Disease]
- Keratosis palmaris et plantaris-clinodactyly syndrome [ORDO Disease]
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome [ORDO Disease]
- Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome [ORDO Disease]
- Mal de Meleda [ORDO Disease]
- Marginal papular palmoplantar keratoderma [ORDO Disease]
- Multiple benign circumferential skin creases on limbs [ORDO Disease]
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques [ORDO Disease]
- Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome [ORDO Disease]
- Non-epidermolytic palmoplantar keratoderma [ORDO Disease]
- Palmoplantar keratoderma, Nagashima type [ORDO Disease]
- Palmoplantar keratoderma-deafness syndrome [ORDO Disease]
- Papillon-Lefèvre syndrome [ORDO Disease]
- Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome [ORDO Disease]
- Porokeratosis [ORDO Disease]
- Porokeratosis of Mibelli [ORDO Disease]
- Porokeratosis plantaris palmaris et disseminata [ORDO Disease]
- Primary cutis verticis gyrata [ORDO Disease]
- Primary essential cutis verticis gyrata [ORDO Disease]
- Primary non-essential cutis verticis gyrata [ORDO Disease]
- Progressive symmetric erythrokeratodermia [ORDO Disease]
- Pseudoxanthoma elasticum [ORDO Disease]
- Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa [ORDO Disease]
- Punctate palmoplantar keratoderma [ORDO Disease]
- Punctate palmoplantar keratoderma type 1 [ORDO Disease]
- Punctate palmoplantar keratoderma type 2 [ORDO Disease]
- Pure hair and nail ectodermal dysplasia [ORDO Disease]
- RIN2 syndrome [ORDO Disease]
- Restrictive dermopathy [ORDO Disease]
- Revesz syndrome [ORDO Disease]
- Rothmund-Thomson syndrome [ORDO Disease]
- Rothmund-Thomson syndrome type 1 [ORDO Disease]
- Rothmund-Thomson syndrome type 2 [ORDO Disease]
- SCARF syndrome [ORDO Disease]
- Schöpf-Schulz-Passarge syndrome [ORDO Disease]
- Severe dermatitis-multiple allergies-metabolic wasting syndrome [ORDO Disease]
- Skin fragility-woolly hair-palmoplantar keratoderma syndrome [ORDO Disease]
- Striate palmoplantar keratoderma [ORDO Disease]
- Thost-Unna palmoplantar keratoderma [ORDO Disease]
- Transgrediens et progrediens palmoplantar keratoderma [ORDO Disease]
- Woolly hair-palmoplantar keratoderma syndrome [ORDO Disease]
- Wrinkly skin syndrome [ORDO Disease]
- X-linked ichthyosis syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Other specified anomalies of skin [ICD-9 code]
- Other specified congenital anomalies of skin [ICD-9 code]
Validated automatic mappings to BTNT
- Developmental capillary vascular malformations of the skin [ICD-11 Category]
- Genetically-determined cutis laxa [ICD-11 Subcategory]
- Non-syndromic ichthyosis [ICD-11 Subcategory]
- autosomal dominant cutis laxa 1 [DO Concept]
- autosomal dominant cutis laxa 2 [DO Concept]
- autosomal recessive cutis laxa type IA [DO Concept]
- rothmund-thomson syndrome [MeSH Descriptor]

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