ichthyosis, x-linked

Preferred Label : ichthyosis, x-linked;

MeSH definition : Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.;

MeSH synonym : ichthyoses, sex-linked; ichthyoses, x-linked; ichthyosis, sex-linked; ichthyosis, sex linked; ichthyosis, X linked;

CISMeF synonym : x-linked ichthyoses; sex-linked ichthyoses; sex-linked ichthyosis; x-linked ichthyosis;

MeSH hyponym : steroid sulfatase deficiency disease;

Related MeSH term : placental steroid sulfatase deficiency; Steroid Sulfatase Deficiency; Deficiencies, Steroid Sulfatase; Deficiency, Steroid Sulfatase; Steroid Sulfatase Deficiencies; Sulfatase Deficiencies, Steroid; Sulfatase Deficiency, Steroid;

MeSH annotation : do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Détails

Origin ID

D016114;

UMLS CUI

C0079588;

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]
CISMeF manual mappings
- X-linked recessive ichthyosis (disorder) [Inactive SNOMED CT concept]
Currated CISMeF NLP mapping
- Ichthyosis, X-linked [OMIM Phenotype]
- Recessive X-linked ichthyosis [ORDO Disease]
- Syndromic recessive X-linked ichthyosis [ORDO Disease]
- X linked ichthyosis [Disease (Nov.)]
- X-Linked Ichthyosis [NCIt concept]
- X-linked ichthyosis [ICD-10 Sub-category]
- X-linked ichthyosis [DO Concept]
- X-linked ichthyosis [ICD-11 Sub-sub category]
- X-linked ichthyosis [ICD-10 Sub-category (who)]
- X-linked ichthyosis [MedDRA LLT]
- X-linked ichthyosis syndrome [ORDO Disease]
- X-linked ichthyosis with steryl-sulfatase deficiency (disorder) [SNOMED CT concept]
- sex-linked ichthyosis [SNOMED Notion]
- steryl-sulfatase deficiency [SNOMED Notion]
DO Cross reference
- X-linked ichthyosis [DO Concept]
Manual NTBT mappings (CISMeF)
- Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly [ORDO Disease]
- Ichthyosis associated with ocular features [ORDO Disease]
- Inherited ichthyosis [ORDO Disease]
- Metabolic disease with corneal opacity [ORDO Disease]
- Syndromic corneal dystrophy [ORDO Disease]
MeSH Descriptor(s) used for indexing
- Steryl-Sulfatase [MeSH Descriptor]
ORDO relation(s)
- Recessive X-linked ichthyosis [ORDO Disease]
Record concept(s)
- ichthyosis, X-Linked [MeSH concept]
- placental steroid sulfatase deficiency [MeSH concept]
- steroid sulfatase deficiency disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- ichthyosis and male hypogonadism [MeSH Supplementary Concept]
- ichthyosis, X-Linked, without steroid sulfatase deficiency [MeSH Supplementary Concept]
See also
- Steryl-Sulfatase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis, X-linked [OMIM Phenotype]
- X linked ichthyosis [Disease (Nov.)]
- X-Linked Ichthyosis [NCIt concept]
- X-linked ichthyosis [MedDRA LLT]
- X-linked ichthyosis [ICD-10 Sub-category]
- X-linked ichthyosis [ICD-10 Sub-category (who)]
- X-linked ichthyosis [DO Concept]
- X-linked ichthyosis [ICD-11 Sub-sub category]
- X-linked ichthyosis syndrome [ORDO Disease]
- X-linked ichthyosis with steryl-sulfatase deficiency (disorder) [SNOMED CT concept]
- X-linked recessive ichthyosis (disorder) [Inactive SNOMED CT concept]
- sex-linked ichthyosis [SNOMED Notion]
Validated automatic mappings to BTNT
- Syndromic recessive X-linked ichthyosis (disorder) [SNOMED CT concept]

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