pachyonychia congenita

Preferred Label : pachyonychia congenita;

MeSH definition : A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.;

MeSH synonym : pachyonychia congenita syndrome; congenital pachyonychia; pachyonychia, congenital;

CISMeF synonym : congenita syndrome, pachyonychia; congenita syndromes, pachyonychia; congenita, pachyonychia; congenital pachyonychias; pachyonychia congenita syndromes; pachyonychias, congenital; syndrome, pachyonychia congenita; syndromes, pachyonychia congenita;

MeSH hyponym : multiplex, steatocystoma; multiplices, steatocystoma; steatocystoma multiplices; pachyonychia congenita, type 2; pachyonychia congenita, type 1; Jadassohn-Lewandowsky Syndrome; Jadassohn Lewandowsky Syndrome; Jadassohn-Lewandowski Syndrome (Pc-1); Jadassohn Lewandowski Syndrome (Pc 1); Syndrome, Jadassohn-Lewandowski (Pc-1); Type 1 Pachyonychia Congenita; Pachyonychia Congenita Type 1; Pachyonychia Congenita, Jadassohn-Lewandowsky Type; Pachyonychia Congenita, Jadassohn Lewandowsky Type; Pachyonychia Congenita Tarda, Type 1; Jackson-Lawler Syndrome (Pc-2); Jackson Lawler Syndrome (Pc 2); Syndrome, Jackson-Lawler (Pc-2); Type 2 Pachyonychia Congenita; Pachyonychia Congenita Jackson Lawler Type; Pachyonychia Congenita, Jackson-Lawler Type; Pachyonychia Congenita, Jackson Lawler Type; Jackson-Lawler Type Pachyonychia Congenita; Jackson Lawler Type Pachyonychia Congenita;

Wikipedia link : https://en.wikipedia.org/wiki/Pachyonychia congenita;

Details

Origin ID

D053549;

UMLS CUI

C0265334;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Congenital pachyonychia [ICD-11 More detail]
- Jadassohn-Lewandowsky syndrome [PASCAL descriptor]
- Jadassohn-Lewandowsky syndrome [MedDRA LLT]
- Pachyonychia congenita [ICD-11 More detail]
- Pachyonychia congenita [MedDRA Preferred Term]
- Pachyonychia congenita [OMIM phenotypic series]
- Sebocystomatosis [ORDO Disease]
- Steatocystoma multiplex [ICD-11 More detail]
- Steatocystoma multiplex [HPO term]
- Steatocystoma multiplex [PASCAL descriptor]
- Steatocystoma multiplex [ICD-10 Sub-category]
- Steatocystoma multiplex [OMIM Phenotype]
- Steatocystoma multiplex [MedDRA Preferred Term]
- Steatocystoma multiplex (disorder) [SNOMED CT concept]
- steatocystoma multiplex [DO Concept]
Currated CISMeF NLP mapping
- Pachyonychia Congenita [NCIt concept]
- Pachyonychia congenita [ORDO Disease]
- Pachyonychia congenita syndrome (disorder) [SNOMED CT concept]
- congenital pachyonychia [Disease (Nov.)]
- pachyonychia congenita [DO Concept]
- pachyonychia congenita syndrome [SNOMED Notion]
DO Cross reference
- pachyonychia congenita [DO Concept]
Has phenotype(s) (HPO)
- Adolescent onset [HPO term]
Manual NTBT mappings (CISMeF)
- Hereditary palmoplantar keratoderma [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
- Syndromic nail anomaly [ORDO Disease]
MeSH Descriptor(s) used for indexing
- Keratin-16 [MeSH Descriptor]
- Keratin-6 [MeSH Descriptor]
ORDO relation(s)
- Pachyonychia congenita [ORDO Disease]
Record concept(s)
- pachyonychia congenita [MeSH concept]
- pachyonychia congenita, type 1 [MeSH concept]
- pachyonychia congenita, type 2 [MeSH concept]
Related MeSH Supplementary Concept(s)
- gorlin bushkell jensen syndrome [MeSH Supplementary Concept]
- pachyonychia congenita recessive [MeSH Supplementary Concept]
See also
- Keratin-17 [MeSH Descriptor]
- Keratin-6 [MeSH Descriptor]
- nails, malformed [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pachyonychia Congenita [NCIt concept]
- Pachyonychia congenita [ORDO Disease]
- Pachyonychia congenita [MedDRA Preferred Term]
- Pachyonychia congenita syndrome (disorder) [SNOMED CT concept]
- congenital pachyonychia [Disease (Nov.)]
- pachyonychia congenita [DO Concept]
- pachyonychia congenita syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Pachyonychia congenita 1 [OMIM Phenotype]
- Pachyonychia congenita 2 [OMIM Phenotype]
- pachyonychia congenita type I [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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