| Descriptor English: | Pachyonychia Congenita | ||||||
| Descriptor Spanish: |
Paquioniquia Congénita
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| Descriptor Portuguese: | Paquioníquia Congênita | ||||||
| Descriptor French: | Pachyonychie congénitale | ||||||
| Entry term(s): |
Congenital Pachyonychia Jackson Lawler Syndrome (Pc 2) Jackson Lawler Type Pachyonychia Congenita Jackson-Lawler Syndrome (Pc-2) Jackson-Lawler Type Pachyonychia Congenita Jadassohn Lewandowski Syndrome (Pc 1) Jadassohn Lewandowsky Syndrome Jadassohn-Lewandowski Syndrome (Pc-1) Jadassohn-Lewandowsky Syndrome Pachyonychia Congenita Jackson Lawler Type Pachyonychia Congenita Syndrome Pachyonychia Congenita Tarda, Type 1 Pachyonychia Congenita Type 1 Pachyonychia Congenita, Jackson Lawler Type Pachyonychia Congenita, Jackson-Lawler Type Pachyonychia Congenita, Jadassohn Lewandowsky Type Pachyonychia Congenita, Jadassohn-Lewandowsky Type Pachyonychia Congenita, Type 1 Pachyonychia Congenita, Type 2 Pachyonychia, Congenital Syndrome, Jackson-Lawler (Pc-2) Syndrome, Jadassohn-Lewandowski (Pc-1) Type 1 Pachyonychia Congenita Type 2 Pachyonychia Congenita |
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| Tree number(s): |
C16.131.077.350.856 C16.131.831.350.856 C16.320.850.250.856 C17.800.529.594 C17.800.804.350.856 C17.800.827.250.856 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D053549 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Nails, Malformed (1964-2006) |
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| Public MeSH Note: | 2007 |
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| History Note: | 2007 |
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| Related: |
Keratin-17
MeSH Keratin-6 MeSH Nails, Malformed MeSH | ||||||
| DeCS ID: | 52142 | ||||||
| Unique ID: | D053549 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2007/01/01 | ||||||
| Date of Entry: | 2006/07/05 | ||||||
| Revision Date: | 2018/06/14 |
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Pachyonychia Congenita
- Preferred
Pachyonychia Congenita, Type 1
- Narrower
Pachyonychia Congenita, Type 2
- Narrower
| Concept UI |
M0494472 |
| Scope note | 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. |
| Preferred term | Pachyonychia Congenita |
| Entry term(s) |
Congenital Pachyonychia Pachyonychia Congenita Syndrome Pachyonychia, Congenital |
| Concept UI |
M0494506 |
| Scope note | A subtype of pachyonychia congenita that is associated with mutations in the gene for KERATIN-16 and the gene for KERATIN-6A. |
| Preferred term | Pachyonychia Congenita, Type 1 |
| Entry term(s) |
Jadassohn Lewandowski Syndrome (Pc 1) Jadassohn Lewandowsky Syndrome Jadassohn-Lewandowski Syndrome (Pc-1) Jadassohn-Lewandowsky Syndrome Pachyonychia Congenita Tarda, Type 1 Pachyonychia Congenita Type 1 Pachyonychia Congenita, Jadassohn Lewandowsky Type Pachyonychia Congenita, Jadassohn-Lewandowsky Type Syndrome, Jadassohn-Lewandowski (Pc-1) Type 1 Pachyonychia Congenita |
| Concept UI |
M0494507 |
| Scope note | A subtype of pachyonychia congenita that is associated with mutations in the genes for KERATIN-17 or KERATIN-6B. |
| Preferred term | Pachyonychia Congenita, Type 2 |
| Entry term(s) |
Jackson Lawler Syndrome (Pc 2) Jackson Lawler Type Pachyonychia Congenita Jackson-Lawler Syndrome (Pc-2) Jackson-Lawler Type Pachyonychia Congenita Pachyonychia Congenita Jackson Lawler Type Pachyonychia Congenita, Jackson Lawler Type Pachyonychia Congenita, Jackson-Lawler Type Syndrome, Jackson-Lawler (Pc-2) Type 2 Pachyonychia Congenita |
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