ichthyosis, lamellar

Preferred Label : ichthyosis, lamellar;

MeSH definition : A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.;

MeSH synonym : congenital ichthyosiform erythroderma, nonbullous; erythroderma ichthyosiformes, nonbullous; ichthyosiformes, nonbullous erythroderma; erythroderma ichthyosiforme, nonbullous; ichthyoses, lamellar; ichthyosiform erythroderma, nonbullous congenital; nonbullous congenital ichthyosiform erythroderma; congenital nonbullous ichthyosiform erythroderma; nonbullous erythroderma ichthyosiforme; nonbullous erythroderma ichthyosiformes; nonbullous congenital lamellar ichthyosis; lamellar ichthyoses; ichthyosiforme, nonbullous erythroderma; lamellar ichthyosis; ichthyose, lamellar; lamellar ichthyose;

CISMeF synonym : I, ichthyosis congenita;

MeSH hyponym : ichthyosis congenita II; ichthyosis congenita I; Congenita II, Ichthyosis; Congenita IIs, Ichthyosis; Ichthyosis Congenita IIs; Congenita I, Ichthyosis; Congenita Is, Ichthyosis; Ichthyosis Congenita Is; Is, Ichthyosis Congenita; Ichthyosis Congenita; Congenita, Ichthyosis; Congenitas, Ichthyosis; Ichthyosis Congenitas; Lamellar Ichthyosis, Type 1; Lamellar Exfoliation of Newborn; Newborn Lamellar Exfoliation; Newborn Lamellar Exfoliations; Ichthyosis, Lamellar, 1;

Related MeSH term : collodion fetus; harlequin fetus; Fetus, Collodion; Collodion Baby Syndrome; Baby Syndrome, Collodion; Baby Syndromes, Collodion; Collodion Baby Syndromes; Syndrome, Collodion Baby; Syndromes, Collodion Baby; Desquamation of Newborn; Newborn Desquamation; Newborn Desquamations; Fetus, Harlequin; Harlequin Baby Syndrome; Baby Syndrome, Harlequin; Baby Syndromes, Harlequin; Harlequin Baby Syndromes; Syndrome, Harlequin Baby; Syndromes, Harlequin Baby; Harlequin Ichthyosis; Harlequin Ichthyoses; Ichthyoses, Harlequin; Ichthyosis, Harlequin; Lamellar Exfoliation of Newborn; Newborn Lamellar Exfoliation; Newborn Lamellar Exfoliations;

MeSH annotation : do not coord with INFANT, NEWBORN, DISEASES;

Wikipedia link : https://en.wikipedia.org/wiki/Ichthyosis, lamellar;

Details

Origin ID

D017490;

UMLS CUI

C0079154;

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)
- Collodion baby [PASCAL descriptor]
- Collodion baby [MedDRA Preferred Term]
- Colon, unspecified [ICD-10 Sub-category (who)]
- Colon, unspecified [ICD-10 Sub-category (who)]
- Congenital non bullous ichthyosiform erythroderma (disorder) [SNOMED CT concept]
- Congenital non-bullous ichthyosiform erythroderma [ICD-11 More detail]
- Congenital non-bullous ichthyosiform erythroderma [ORDO Disease]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Harlequin Ichthyosis [NCIt concept]
- Harlequin fetus [PASCAL descriptor]
- Harlequin fetus [ICD-10 Sub-category]
- Harlequin fetus [ICD-10 Sub-category (who)]
- Harlequin fetus [MedDRA LLT]
- Harlequin fetus (disorder) [SNOMED CT concept]
- Harlequin foetus [MedDRA Preferred Term]
- Harlequin ichthyosis [ORDO Disease]
- Ichthyosis congenita [MedDRA LLT]
- Ichthyosis, congenital, autosomal recessive 2 [OMIM Phenotype]
- Ichthyosis, congenital, autosomal recessive 4b [OMIM Phenotype]
- Ichthyosis, congenital, autosomal recessive 5 [OMIM Phenotype]
- Large intestine [FMA entity]
- Li Chinese [NCIt concept]
- Liechtenstein [NCIt concept]
- Non bullous ichtyosiform erythroderma [PASCAL descriptor]
- Non-bullous ichthyosiform erythroderma (disorder) [SNOMED CT concept]
- autosomal recessive congenital ichthyosis [DO Concept]
- autosomal recessive congenital ichthyosis 4B [DO Concept]
- harlequin fetus [SNOMED Notion]
- large intestine [ICF N3 Element]
- large intestine, nos [SNOMED Notion]
- recessive congenital ichthyosiform erythroderma [SNOMED Notion]
Currated CISMeF NLP mapping
- Congenital ichthyosis [HPO term]
- Congenital ichthyosis [MedDRA LLT]
- Congenital ichthyosis of skin (disorder) [SNOMED CT concept]
- Ichthyosis congenital [MedDRA LLT]
- Ichthyosis, congenital, autosomal recessive 1 [OMIM Phenotype]
- Lamellar Ichthyosis [NCIt concept]
- Lamellar ichthyosis [ICD-10 Sub-category]
- Lamellar ichthyosis [ICD-10 Sub-category (who)]
- Lamellar ichthyosis [ICD-11 More detail]
- Lamellar ichthyosis [ORDO Disease]
- Lamellar ichthyosis [MedDRA LLT]
- Lamellar ichthyosis (disorder) [SNOMED CT concept]
- Lamellar ichtyosis [PASCAL descriptor]
- lamellar ichthyosis [Disease (Nov.)]
DO Cross reference
- autosomal recessive congenital ichthyosis [DO Concept]
HPO term
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
Has phenotype(s) (HPO)
- Congenital lamellar ichthyosis [HPO term]
Manual NTBT mappings (CISMeF)
- Bathing suit ichthyosis [ORDO Disease]
- 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]
- Secondary ectropion [ORDO Disease]
ORDO relation(s)
- Lamellar ichthyosis [ORDO Disease]
Record concept(s)
- Ichthyosis Congenita [MeSH concept]
- collodion fetus [MeSH concept]
- harlequin fetus [MeSH concept]
- ichthyosis congenita I [MeSH concept]
- ichthyosis congenita II [MeSH concept]
- ichthyosis, lamellar [MeSH concept]
Related MeSH Supplementary Concept(s)
- Self-Healing collodion baby [MeSH Supplementary Concept]
- harlequin type ichthyosis [MeSH Supplementary Concept]
- ichthyosiform erythroderma, brocq congenital, nonbullous form [MeSH Supplementary Concept]
- ichthyosiform erythroderma, corneal involvement, deafness [MeSH Supplementary Concept]
- ichthyosis, lamellar, 5 [MeSH Supplementary Concept]
- lamellar ichthyosis, autosomal dominant form [MeSH Supplementary Concept]
- lamellar ichthyosis, type 2 [MeSH Supplementary Concept]
- lamellar ichthyosis, type 3 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Congenital ichthyosis, unspecified [ICD-10 Sub-category]
- Harlequin fetus (disorder) [SNOMED CT concept]
- Harlequin ichthyosis [ICD-11 More detail]
- Hereditary ichthyosis [Vue CIM-11]
- Ichthyosis congenita [ICD-9 code]
- congenital ichthyosis [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Collodion baby [MedDRA Preferred Term]
- Congenital non bullous ichthyosiform erythroderma (disorder) [SNOMED CT concept]
- Congenital non-bullous ichthyosiform erythroderma [ORDO Disease]
- Congenital non-bullous ichthyosiform erythroderma [ICD-11 More detail]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Lamellar Ichthyosis [NCIt concept]
- Lamellar ichthyosis [MedDRA LLT]
- Lamellar ichthyosis [ICD-10 Sub-category]
- Lamellar ichthyosis [ORDO Disease]
- Lamellar ichthyosis [ICD-10 Sub-category (who)]
- Lamellar ichthyosis [ICD-11 More detail]
- Lamellar ichthyosis (disorder) [SNOMED CT concept]
- Lamellar ichtyosis [PASCAL descriptor]
- autosomal recessive congenital ichthyosis [DO Concept]
- lamellar ichthyosis [Disease (Nov.)]
Validated automatic mappings to BTNT
- Harlequin ichthyosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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