Elejalde disease
Familial progressive hyper and hypopigmentation
Autosomal recessive pseudoxanthoma elasticum
Benign chronic pemphigus
Exostosis, anetoderma, brachydactyly type E syndrome
Keratoderma with wooly hair type IV
Syndrome, Rothmund-Thomson
Poikiloderma Congenitales
Keratolysis exfoliativa
Dermatoglyphs
X-linked dyskeratosis congenita
Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification
Dermatochalasia
PEMPHIGUS, BENIGN FAMILIAL
Circumscribed palmoplantar keratoderma
Retrognathia
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Congenital leuconychia
Epilepsy, mental deterioration and yellow teeth
Dysmorphism, cleft palate, loose skin syndrome
Congenital ectodermal defect
Hypohidrotic autosomal recessive ectodermal dysplasia
CMTC - Cutis marmorata telangiectatica congenita
Curly hair, acral keratoderma, caries syndrome
Cutis marmorata telangiectasia congenita
Hereditary palmoplantar keratoderma
Clubbing of nail
Blue nevus of skin
Punctate palmoplantar keratoderma type 3
chalastodermia
Hereditary skin peeling syndrome
Mutilating keratoderma of Vohwinkel
Autosomal dominant pseudoxanthoma elasticum
Olmsted syndrome
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
Rothmund Thomson syndrome type 2
Congenital Poikiloderma
Palmoplantar hyperkeratosis with arrhythmogenic cardiomyopathy
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Congenital corneal leukoma
M-CM - macrocephaly capillary malformation
PENS (papular epidermal naevi with skyline basal cell layers) syndrome
Keratosis follicularis
Aplasia of ring finger
Congenital hypoplasia of sudoriferous gland
MEDNIK syndrome
Huriez syndrome
Poikiloderma of Rothmund Thomson
Symmetrical dyschromatosis of extremities
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome
Congenital bullous poikiloderma
Linear/nevoid/zosteriform Darier disease
Congenital hypotrichosis
Livedo reticularis
PARC syndrome
Mosaic NF1 (neurofibromatosis 1) like syndrome
CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome
Arrhythmogenic right ventricular cardiomyopathy
Clinodactyly
Osteoporosis and oculocutaneous hypopigmentation syndrome
Congenital clinodactyly of fifth digit of hand
Localized congenital cutis laxa
Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma
Congenital keratoderma
Connective tissue nevus
Keratosis rubra pilaris
Baird syndrome
dermatochalazia
Talipes plantaris
Vohwinkel syndrome
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
Congenital melanosis
Reticulate acropigmentation of Dohi
FODH - Focal dermal hypoplasia
MACS (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome
Acanthosis nigricans
Extramedullary hematopoiesis
Increased curvature of nails
Achondroplasia
Rothmund-Thomson syndrome
Pseudoxanthoma elasticum
Congenital crooked finger
Multiple benign annular creases of extremities
Focal acral hyperkeratosis
Hoyeraal-Hreidarsson syndrome
Type 1 aplasia cutis
Familial benign pemphigus
Autosomal recessive cutis laxa type 1C
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome
Leukonychia totalis
Inherited cutis laxa
Pai syndrome
Inflammatory dermatosis of newborn
Connective tissue naevus
chalazodermia
Arrhythmogenic right ventricular dysplasia
Erythrokeratolysis hiemalis
Inherited cutaneous hyperpigmentation
Recession of bone
Acroerythrokeratoderma
Lipoma of brain
Loose and inelastic skin
Skin lines
Papular epidermal nevi with skyline basal cell layers syndrome
Congenital osteosclerosis
Poikiloderma of Rothmund-Thomson
Mass of palm
Generalized elastolysis
Hidrotic ectodermal dysplasia
Isolated congenital adermatoglyphia
Juvenile elastoma
Macrocephaly-capillary malformation
Erythrokeratodermia variabilis Kamouraska type
Dermatoglyphic abnormalities
Glycosaminoglycans nevus
Oligohidrosis
Ofuji disease
PENS syndrome
Congenital hypoplasia of skin
Localized palmoplantar keratoderma
Vohwinkel ichthyosis syndrome
Microphthalmos due to Delleman syndrome
Congenital pigmentary anomaly of skin
Abnormal blue sclerae
Flexural Darier's disease
cutis laxa
Nonsyndromic aplasia cutis congenita
benign familial pemphigus
Tall forehead, sparse hair, skin hyperextensibility, scoliosis syndrome
Osteopathia striata, pigmentary dermopathy, white forelock syndrome
DKC - Dyskeratosis congenita
Cantu craniofaciofrontodigital syndrome
ARCL1C - autosomal recessive cutis laxa type 1C
Cutis laxa (hyperelastica)
Palmoplantar keratoderma with deafness syndrome
Poikiloderma Congenitale of Rothmund-Thomson
Variation in hair color
Hailey Hailey Disease
Familial continuous skin peeling syndrome
Simian crease
Hereditary clubbing
PARC (poikiloderma, alopecia, retrognathism, cleft palate) syndrome
Hereditary sensorimotor neuropathy with hyperelastic skin
Terminal osseous dysplasia and pigmentary defect syndrome
Blue naevus of skin
Angiomatosis
Hippocratic nail
Keratolytic winter erythema
Benign acanthosis nigricans
Pes cavus
Congenital erosive and vesicular dermatosis
Dermatomegaly
WSS - Wrinkly skin syndrome
Gronblad Strandberg Touraine syndrome
Goltz syndrome
Palmoplantar keratoderma esophageal carcinoma syndrome
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma
KRT1-related diffuse nonepidermolytic keratoderma
Familial benign chronic pemphigus
Rothmund Thomson Syndrome
Lump of palm
Rothmund Thomson syndrome type 1
Inelastic skin
Erythrokeratodermia cardiomyopathy syndrome
Epilepsy, dementia and amelogenesis imperfecta
Poikiloderma, congenital
Insulin receptor defect with insulin-resistant diabetes mellitus and acanthosis nigricans
Palmoplantar keratoderma with clinodactyly syndrome
Voorhoeve's disease
Cutis laxa, recessive, type II
Neonatal ofuji's disease
Diffuse palmoplantar keratoderma with painful fissures
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
Mendes da Costa syndrome
Palmoplantar keratoderma and congenital alopecia Stevanovic type
Buschke Fischer Brauer syndrome
Autosomal recessive palmoplantar keratoderma and congenital alopecia Wallis type
Christianson Fourie syndrome
Witkop-von Sallman syndrome
Howel-Evans' syndrome
Pseudoacanthosis nigricans
Hereditary acropachy
Congenital absence of skin on scalp
Darier disease
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome
Mosaic Legius syndrome
Naegeli-Franceschetti-Jadassohn syndrome
Cutis gyrata syndrome of Beare and Stevenson
Ofuji's disease
Cutis laxa, recessive, type I
Congenitale, Poikiloderma
Keratoderma
Wrinkly skin syndrome
Congenital preauricular pit
Alveolar bone loss
Clouston syndrome
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
MIDAS syndrome (microphthalmia, dermal aplasia, sclerocornea) syndrome
Congenital palmoplantar and perioral keratoderma of Olmsted
Congenital wooly hair
HAILEY-HAILEY DISEASE
Epidermolytic palmoplantar hyperkeratosis
Leopard syndrome lentiginosis
Talipes cavus
Kindler syndrome
Primary elastolysis
Eosinophilic pustular folliculitis
Abnormal dermatoglyphic pattern (disorder)
Inherited disorder of keratinisation
Inherited keratosis palmaris et plantaris
Dermatopathia pigmentosa reticularis
Generalized elastorrhexis
Delleman-Oorthuys syndrome
Dermatoleukodystrophy
MCAP - megalencephaly capillary malformation
looses skin
Hereditary benign intraepithelial dyskeratosis
Kohlschutter syndrome
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome
Hyperplastic gingiva
Hyperplasia of gingiva
Systematized linear porokeratosis
Connective tissue hamartoma of skin
Hereditary diffuse palmoplantar keratoderma
Familial multiple lentigines syndrome without systemic involvement
Neuroectodermal melanolysosomal disease
ANOTHER syndrome
Focal palmoplantar keratoderma with joint keratoses
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome
Congenital complete absence of distal interphalangeal skin crease of ring finger
Beare-Stevenson cutis gyrata syndrome
Shaheen syndrome
Variation in hair colour
Classic eosinophilic pustular folliculitis
Autosomal recessive familial woolly hair
Systematized elastorrhexis
Mongolian macula
Keratosis follicularis [Darier-White]
Congenital accessory skin tag
Keratodermia palmoplantaris papulosa Buschke Fischer Brauer type
Otopalatodigital syndrome spectrum disorder
Autosomal recessive cutis laxa type 2A
Congenital hypoplasia of pilosebaceous apparatus
Palmoplantar keratoderma sclerodactyly syndrome
Hereditary acantholytic dermatosis
RIN2 deficiency
Keratoderma with carcinoma of oesophagus
Blue sclera
Nail dystrophy due to benign familial pemphigus
Cutis marmorata telangiectatica congenita
Abnormal palmar creases
BCPM
Acral Darier's disease
Cole-Engmann-Zinsser syndrome
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Thost-Unna keratoderma
Autosomal recessive familial wooly hair
Palmoplantar keratoderma oesophageal carcinoma syndrome
Amelocerebrohypohidrotic syndrome
Lipomatous hypertrophy
Systematised elastorrhexis
Punctate palmoplantar hyperkeratosis type 3
Rothmund-Thomson syndrome (disorder)
Central cleft lip
Mongolian blue spot
Familial generalized lentiginosis
Isolated focal non-epidermolytic palmoplantar keratoderma
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu
Vascular neurocutaneous syndrome
Congenital accessory skin tag (disorder)
Absence of fingerprints with congenital milia syndrome
Syndromic microphthalmia type 7
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Juvenile periodontosis with hyperkeratosis
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
Cutis laxa with joint laxity AND retarded development
Naevus elasticus
Generalised elastorrhexis
Powell Venencie Gordon syndrome
Congenital hypotrichia
Severe dermatitis, multiple allergies, metabolic wasting syndrome
Sparse hair, short stature, skin anomalies syndrome
Winter erythrokeratolysis
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome
Inherited pseudoxanthoma elasticum
Congenital telangiectatic erythema syndrome
Cutis verticis gyrata
Dermal connective tissue hamartoma
MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome
Retrognathism
Bennion Patterson syndrome
Elastic nevus
Congenital skin contracture
Progressive palmoplantar keratoderma
Connective tissue nevus of skin
Congenital absence of fingerprints
Milia
Papular epidermal naevi with skyline basal cell layers syndrome
Focal dermal hypoplasia
Dermatoglyphic anomalies
Michelin-tyre baby
Extramedullary haematopoiesis
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome
Craniosynostosis, anal anomaly, porokeratosis syndrome
Familial lentigines profusa
Papuloverrucous palmoplantar keratoderma of Jakac-Wolf
SCAR5 - spinocerebellar ataxia autosomal recessive 5
Symmetrical progressive erythrokeratoderma
Clawfoot
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
Keratoderma with woolly hair type IV
Chronic hemolytic anemia
Poikiloderma atrophicans and cataract
Frontonasal dysplasia sequence
Congenital clubnail
Cutaneous laxity
Dermatoglyphic abnormality
Dermatoglyphs - skin lines
Congenital complete absence of interphalangeal skin crease
Cutis gyrata, acanthosis nigricans, craniosynostosis syndrome
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome
Congenital dermal sinus
ANOTHER (alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy, respiratory tract infection) syndrome
Primary non-essential cutis verticis gyrata
Franceschetti-Jadassohn syndrome
Keratoderma with scleroatrophy of extremities
Aplasia cutis congenita secondary to malformation syndrome (Type 9)
Vohwinkel's mutilating keratoderma
Skin punctum
Blue sacral spot
Kohlschütter Tönz syndrome
Glycosaminoglycans naevus
Palmoplantar keratoderma, Charcot-Marie-Tooth syndrome
Oudtshoorn disease
Hypoelastic skin
AKV - Acrokeratosis verruciformis
Short stature, nail dysplasia, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Acropachy
Accessory skin tags
Hereditary follicular keratoses
Finding of palmar crease
Preauricular pit
Mucosal melanosis
HHD
Naxos disease
Agenesis of distal interphalangeal flexion crease
Dyskeratosis follicularis
Preauricular dimple
Immigration delay disease
Agenesis of distal interphalangeal flexion crease of ring finger
Porokeratosis of Mibelli
Aplasia of palmar crease
Congenital dyskeratosis
Disseminated superficial porokeratosis
Keratoderma hereditarium mutilans
Dyschromatosis universalis
Osteosclerosis congenita
Hypohidrotic ectodermal dysplasia, hypothyroidism, ciliary dyskinesia syndrome
Keratosis palmoplantaris striata
CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) syndrome
White forelock
Congenitales, Poikiloderma
Single transverse palmar crease
RTS
Congenital abnormality of sclera
HOPP syndrome
Inherited disorder of keratinization
Agenesis of interphalangeal skin crease
Facial dysmorphism, cleft palate, loose skin syndrome
Keratosis follicularis, dwarfism, cerebral atrophy syndrome
Crocq's disease
Abnormal palmar creases (disorder)
Malignant melanoma arising in congenital nevus
Familial continual skin peeling
loose skin
PENS (papular epidermal nevi with skyline basal cell layers) syndrome
poikiloderma congenitale
Erythrokeratodermia variabilis
Dermatolyses
Abnormality of the palmar creases
Dermatolysis
Scleroatrophic syndrome
Familial benign pemphigus (disorder)
Diffuse palmoplantar keratoderma of Thost-Unna
Congenital extramedullary dermal hematopoiesis
Darier-White disease
Median cleft face syndrome
Anetoderma
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome
Cole disease
Acropigmentation of Dohi
Congenital hypoplasia of eccrine gland
Multiple malformation syndrome, small stature, without skeletal dysplasia
Congenital scar
Keratoderma ichthyosiform dermatosis elevated beta-glucuronidase syndrome
Keratosis pilaris decalvans
Van Lohuizen's syndrome
Cutis laxa secondary to inherited disorder of connective tissue
MACS syndrome
Flynn-Aird syndrome
Melanosis of mucosa of body orifice
Hair discolouration
Canities
Tylosis esophageal carcinoma syndrome
Congenital erosive and vesicular dermatosis with reticulated supple scarring
Congenital lethal erythroderma
Michelin-tire baby
Fitzsimmons McLachlan Gilbert syndrome
Keratosis palmoplantaris oesophageal carcinoma syndrome
Urban Rifkin Davis syndrome
Ectodermal dysplasia with skin anomaly and intellectual disability
Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
Dwarfism, alopecia, pseudoanodontia, cutis laxa
Achondroplastic dwarfism
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
Cafe au lait spots
Halal Setton Wang syndrome
Keratoderma with wooly hair type II
KLICK syndrome
Familial generalised lentiginosis
Poikiloderma congenitale syndrome
DPR - Dermatopathia pigmentosa reticularis
Café au lait spot
Neonatal dermatitis
Benign familial chronic pemphigus
Hairy malformation of palms and soles
Keratosis palmaris et plantaris with clinodactyly syndrome
Dominant autosomal hereditary disorder, incomplete penetrance
Familial progressive hyperpigmentation and hypopigmentation of skin
Achondroplastic dwarf
dermatochalasis
PPKP3 - palmoplantar keratoderma punctate type 3
Agenesis of proximal interphalangeal flexion crease
Hypotrichosis congenita
Rosenthal-Klöpfer syndrome
Primary essential cutis verticis gyrata
Acrokeratosis verruciformis of Darier disease
Deaf blind hypopigmentation syndrome Yemenite type
Congenital hypoplasia of apocrine gland of axilla
CDAGS (craniosynostosis, clavicular hypoplasia, delayed closure of fontanelle, anal anomalies, genitourinary malformations, skin eruption) syndrome
Focal palmoplantar and gingival keratoderma
Systemic elastorrhexis
elastolysis
Autosomal dominant dyskeratosis congenita
Non-epidermolytic palmoplantar keratoderma
Kohlschutter's syndrome
Progressive palmoplantar keratoderma of Greither
Dyskeratosis congenita
Congenital erythroderma, hypotrichosis, recurrent infections, multiple food allergies syndrome
Giant porokeratosis
Melanism
Oculocerebrocutaneous syndrome
Weary-Kindler syndrome
hailey disease
Palmoplantar keratoderma, spastic paralysis syndrome
CDAGS syndrome
Congenital woolly hair
Keratosis palmoplantaris esophageal carcinoma syndrome
Whyte Murphy syndrome
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome
Abnormal fingerprints
Hyperpigmentation of oral mucosa
Congenital extramedullary dermal haematopoiesis
Autosomal recessive cutis laxa type 2 progeroid type
Gronblad Strandberg syndrome
Keratosis palmoplantaris striata et areata
Hypertrophic Darier disease
Zosteriform porokeratosis
Ambiguous genitalia
Psorospermosis follicularis vegetans
Trichothiodystrophy
Multiple lentigines syndrome
Idiopathic deciduous skin
Congenital absence of skin on scalp with epidermal nevi
Mosaic neurofibromatosis 1-like syndrome
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Meleda disease
Erythrokeratoderma
Congenital pigmentary skin anomalies
Acrocyanosis
Congenital hypoplastic pilosebaceous unit
Psorospermosis
Nevus elasticus
Zinsser-Cole-Engman syndrome
Mongolian spot
SAM syndrome
Reticulate pigmented anomaly of flexures
SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome
Macroencephaly
Acrokeratoelastoidosis of Costa
Café au lait spots
Congenital clinodactyly of little finger
Porokeratosis plantaris palmaris et disseminata
Thumb deformity, alopecia, pigmentation anomaly syndrome
Darier's disease
HAILEY HAILEY DIS
Mal de Meleda
Observation of palmar crease
Acral Darier disease
Keratosis spinulosa
Carvajal syndrome
Achondrogenesis
Hippocratic nails
Localised congenital cutis laxa
Genodermatosis
Goltz-Gorlin syndrome
CEDNIK syndrome
Fat hypertrophy
Livedo racemosa
Tylosis
Palmoplantar hyperkeratosis oesophageal carcinoma syndrome
Keratosis palmoplantaris varians of Wachters
Cutis laxa (disorder)
Mibelli's disease
Palmoplantar keratoderma Nagashima type
Skin fragility, wooly hair, palmoplantar keratoderma syndrome
Hypohydrosis
Hidrotic ectodermal dysplasia syndrome
Craniofaciofrontodigital syndrome
Nail dystrophy due to Hailey-Hailey disease
Wooly hair with palmoplantar keratoderma syndrome
Ectodermal dysplasia short stature syndrome
Megalencephaly
Congenital cutaneous angiomatosis
Hypohidrosis
Congenital corneal leucoma
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections
Palmoplantar hyperkeratosis sclerodactyly syndrome
Spastic paraplegia, neuropathy, poikiloderma syndrome
Thost-Unna diffuse palmoplantar keratoderma
Chalazoderma
Macrocephaly-cutis marmorata telangiectatica congenita
Melanin pigmentation of oral mucosa
Atrophoderma maculatum
Abnormal plantar creases
Agenesis of proximal interphalangeal skin crease
MIDAS syndrome
Zinsser-Cole-Engmann syndrome
Autosomal recessive dyskeratosis congenita
Erythrokeratoderma progressiva of Gottron
Palmoplantar keratoderma transgrediens
Congenital absence of phalangeal crease
Keratosis pilaris
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome
Striate palmoplantar keratoderma
Corneal leucoma
Type 3 aplasia cutis
Tylosis oesophageal carcinoma syndrome
Abnormal palmar crease
Howel Evans syndrome
Hemolytic anemia with emphysema AND cutis laxa
Congenital complete absence of distal interphalangeal skin crease
Dermatitis of the newborn
BS - Bloom syndrome
skin laxity
Diffuse palmoplantar keratoderma and acrocyanosis syndrome
Congenital absence of skin on scalp with epidermal naevi
Systematised linear porokeratosis
Congenital atrophy of optic nerve
Contracted foot
Multiple malformation syndrome with senile-like appearance
Hereditary erythrokeratolysis
Acroosteolysis
Cutis laxa, autosomal recessive
Hereditary sclerosing poikiloderma
Hernandez Fragoso syndrome
Bloom syndrome
Flexural Darier disease
Corneal leukoma
Papillon-Lefevre syndrome
Howel-Evans-Clark syndrome
Porokeratosis
Naegeli's syndrome
Congenital clubbing
Linear porokeratosis
Abnormal dermatoglyphics
Cutis laxa with bone dystrophy
Chronic haemolytic anaemia
Osteopathia striata
ARCL2A - autosomal recessive cutis laxa type 2A
Microphthalmia with linear skin defect syndrome
Brugsch's syndrome
Brugsch syndrome
Hypertrophic Darier's disease
Abnormality of the palm lines
Cutis laxa with osteodystrophy
CEVD - congenital erosive and vesicular dermatosis
Cutis laxa, autosomal dominant
Hidrotic ectodermal dysplasia Christianson Fourie type
Congenital complete absence of proximal interphalangeal skin crease
Diffuse palmoplantar keratoderma
Familial Pemphigus, Benign
Keratosis follicularis spinulosa decalvans
Congenital clinodactyly of finger
Diffuse dermatitis
CHACS - curly hair, acral keratoderma, caries syndrome
Westerhof Beemer Cormane syndrome
PXE - Pseudoxanthoma elasticum
Nail dystrophy due to Darier disease
Congenital clubbed nail
Palmoplantar keratoderma
Eosinophilic folliculitis
KP - Keratosis pilaris
Punctate palmoplantar keratoderma type 1
diseases hailey hailey
Abnormal dermatoglyphic pattern
Hidrotic ectodermal dysplasia Halal type
Classic EPF (eosinophilic pustular folliculitis)
Agenesis of phalangeal flexion crease
Acrokeratosis verruciformis of Hopf
Elastic naevus
Exostosis, anetodermia, brachydactyly type E syndrome
Lax skin
Hypotrichosis with keratosis pilaris and lentiginosis
Palmar pitting due to Darier disease
Hippocratic fingers
Insulin receptor defect
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
Congenital hypoplasia of sweat gland
Acrokerato-elastoidosis
Lichen spinulosus
Localised palmoplantar keratoderma
Club nail
Linear/nevoid/zosteriform Darier's disease
Hereditary sclerosing poikiloderma of Weary
Poikiloderma, alopecia, retrognathism, cleft palate syndrome
SADDAN (severe achondroplasia, developmental delay, acanthosis nigricans) syndrome
Kindler epidermolysis bullosa
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Papillon-Lefèvre syndrome
Zosteriform lentiginosis
Mutilating keratoderma
Neonatal cutis laxa with marfanoid phenotype
Dowling-Degos syndrome
Antinolo Nieto Borrego syndrome
Punctate palmoplantar keratoderma
Hereditary benign acanthosis nigricans
Palmar pit
Congenital leukonychia
Peeling skin syndrome
LEOPARD syndrome
Peeling skin syndrome, acral type
Neonatal eosinophilic pustular folliculitis
SCARF syndrome
Acral peeling skin syndrome
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome
Cutaneous lesion resulting from spina bifida
Erythrokeratodermia variabilis 3
Benign familial pemphigus [Hailey-Hailey]
Generalised elastolysis
Extensive congenital erosions, vesicles and reticulate scarring
Keratosis pilaris atrophicans
Camisa disease
Congenital livedo reticularis
Congenital optic atrophy
Congenital retrognathism
Keratoderma with wooly hair type I
ARCL2B - autosomal recessive cutis laxa type 2B
Congenital deficiency of pigment of skin
Hair discoloration
Hereditary acroosteolysis
Dermatoglyphic anomaly
Witkop-Von Sallmann disease
Dermatoglyphic anomaly NOS
Peripheral cyanosis
Epidermolytic palmoplantar keratoderma of Vorner
FDH - Focal dermal hypoplasia
Insulin-resistant acanthosis nigricans type A
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
Polykeratosis of Touraine
POIKILODERMA CONGEN
Poikiloderma of Kindler
OPD (otopalatodigital) spectrum disorder
Trichodental syndrome
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome
CAMOS syndrome
Keratoderma hereditarium mutilans with ichthyosis syndrome
Keratoderma with carcinoma of esophagus
Congenital clinodactyly
Warburg Thomsen syndrome
Connective tissue naevus of skin
Dysplasia of larynx
EKC (erythrokeratodermia cardiomyopathy) syndrome
KRT1-related diffuse NEPPK (nonepidermolytic palmoplantar keratoderma)
Congenital oculocutaneous hypopigmentation
Nail dystrophy due to Darier's disease
Megalencephaly capillary malformation
Hereditary benign acanthosis nigricans with insulin resistance
Kindler's syndrome
Genetic syndrome with hypermelanosis
Haemolytic anaemia with emphysema AND cutis laxa
Chondrodystrophia fetalis
Megalencephaly, capillary malformation, polymicrogyria syndrome
Woolly hair with palmoplantar keratoderma syndrome
Rothmund-Thomson Poikilodermas
Autosomal recessive cutis laxa type 2B
Autosomal dominant ichthyosis
Palmoplantar hyperkeratosis esophageal carcinoma syndrome
Absence of dermatoglyphics with congenital milia syndrome
Congenital hypoplasia of sebaceous gland
Keratoderma with woolly hair type II
Malignant melanoma arising in congenital naevus
Palmar pitting due to Darier's disease
Cafe-au-lait spots
Chronic Benign Familial Pemphigus
Rothmund-Thomson Poikiloderma
Keratoderma with woolly hair type I
Congenital anomaly of sclera

Frequently Asked Questions

What is the ICD-10 code for other specified congenital malformations of skin?

The ICD-10-CM code for other specified congenital malformations of skin is Q82.8. The full clinical description is "Other specified congenital malformations of skin". Q82.8 is a billable/specific code that can be used on insurance claims and medical billing.

What does ICD-10 code Q82.8 mean?

ICD-10-CM code Q82.8 represents “Other specified congenital malformations of skin”. It is classified under Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities and is a billable/specific code that can be used on a claim.

Is Q82.8 a billable code?

Yes, Q82.8 is a billable/specific ICD-10-CM code and can be used to indicate a diagnosis on a medical claim.

What chapter is Q82.8 in?

Q82.8 is in Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities (codes Q00-Q99).

What codes cannot be used with Q82.8?

Q82.8 has Excludes1 notes indicating codes that cannot be used together with it, including: acrodermatitis enteropathica (E83.2); congenital erythropoietic porphyria (E80.0); pilonidal cyst or sinus (L05.-); and 2 more.

What SNOMED CT codes does Q82.8 map to?

Q82.8 maps to 299 SNOMED CT concepts: 400085009, 239050000, 784349004, 784381008, 778068007, and 294 more. SNOMED CT is a clinical terminology used in electronic health records.

What are the UMLS CUIs for Q82.8?

Q82.8 is linked to 9 UMLS Concept Unique Identifiers: C0432333, C0221199, C0265988, C0085106, C0010495, and 4 more. The UMLS (Unified Medical Language System) integrates multiple biomedical vocabularies maintained by the U.S. National Library of Medicine.

How does Q82.8 relate to ICF functioning codes?

ICF (International Classification of Functioning, Disability and Health) codes describe how conditions like other specified congenital malformations of skin affect a person's functioning — body functions, activities, participation, and environmental factors. AutoICD provides ICF Core Sets for 12+ conditions and can map clinical text to ICF categories automatically. Browse the ICF directory to explore functioning codes.

What is the ICD-11 equivalent of Q82.8?

Q82.8 maps to the ICD-11 code: LC7Z (Structural developmental anomalies of the skin, unspecified).

Automate ICD-10 Coding With AI

Send clinical text to the AutoICD API and get back structured ICD-10 codes with confidence scores. Integrates into any EHR or billing system in minutes.

Try Free View API Docs

Includes SNOMED Clinical Terms® (SNOMED CT®) used by permission of SNOMED International. Includes content from the UMLS Metathesaurus, courtesy of the U.S. National Library of Medicine.