Interstitial pneumonitis, desquamative, familial

Preferred Label : Interstitial pneumonitis, desquamative, familial;

Symbol : DIP;

CISMeF acronym : DIP;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Interstitial lung disease, desquamative; Pneumonia, desquamative interstitial, familial; Pneumonitis, desquamative interstitial, familial; Ild, desquamative;

Description : Interstitial lung disease (ILD), or pneumonitis, is a heterogeneous group of disorders characterized pathologically by expansion of the interstitial compartment of the lung by inflammatory cells. Fibrosis occurs in many cases (Visscher and Myers, 2006). Desquamative interstitial pneumonitis (DIP) was originally described as a pathologic entity by Liebow et al. (1965). Lung biopsy shows diffuse and uniform filling of alveoli by clusters of cells which Liebow et al. (1965) speculated to be 'desquamated pneumocytes.' Since then, these cells have been shown primarily to be pigmented alveolar macrophages. Other features include thickened alveolar septa with an infiltrate of inflammatory cells and plump, cuboidal type II pneumocytes. Mild collagen deposition without architectural distortion or honeycombing may be present. Different forms of ILD represent pathologic classifications based on histologic patterns rather than clinical diagnoses and may occur in a variety of clinical contexts (Visscher and Myers, 2006). See also usual interstitial pneumonitis (UIP; see 178500), which is associated with pulmonary fibrosis. Although DIP occurs most often as a sporadic disorder in adults during the third to fifth decade of life and is highly associated with smoking (Carrington et al., 1978), reports of a familial form with onset in infancy and early death suggest a genetic basis (Sharief et al., 1994). Cases of DIP reported in infants are often more severe and refractory to treatment than those reported in adults (Nogee et al., 2001). With the advent of molecular genetic analysis, some cases of familial early-onset respiratory insufficiency associated with a pathologic diagnosis of DIP have been shown to result from congenital dysfunction of surfactant metabolism (see, e.g., SMDP1, 265120) due to mutations in genes involved in surfactant metabolism (Nogee et al., 2001; Whitsett and Weaver, 2002).;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Hypoxia;

Prefixed ID : %263000;

Details

Origin ID

263000;

UMLS CUI

C0238378;

Automatic exact mappings (from CISMeF team)
- 3,5-diisopropylsalicylic acid [Substance BNPC]
- 3,5-diisopropylsalicylic acid [MeSH concept]
- 3,5-diisopropylsalicylic acid [MeSH Supplementary Concept]
- DIP ID [EDAM data]
- Defective Interfering Viruses [MeSH Descriptor]
- Desquamative Interstitial Pneumonia [NCIt concept]
- Desquamative interstitial pneumonia [ORDO Disease]
- Diagnostic Imaging Program [NCIt concept]
- Dip Dosing Unit [NCIt concept]
- Dipping (finding) [SNOMED CT concept]
- Dipping - examination (procedure) [SNOMED CT concept]
- Dipping Route of Administration [NCIt concept]
- GRAM domain containing 4 [HGNC gene]
- NCKIPSD wt Allele [NCIt concept]
- Primary immune deficiency disorder (disorder) [SNOMED CT concept]
- Snuff Tobacco [NCIt concept]
- TSC22 domain family member 3 [HGNC gene]
- TSC22D3 wt Allele [NCIt concept]
- desquamative interstitial pneumonia [DO Concept]
- diazenedicarboxylic acid bis(N'-methylpiperazide) [MeSH concept]
- diazenedicarboxylic acid bis(N'-methylpiperazide) [MeSH Supplementary Concept]
- patient rights [MeSH Descriptor]
Currated CISMeF NLP mapping
- interstitial pneumonitis, desquamative, familial [MeSH concept]
- interstitial pneumonitis, desquamative, familial [MeSH Supplementary Concept]
DO Cross reference
- desquamative interstitial pneumonia [DO Concept]
False automatic mappings
- smokeless tobacco [MedlinePlus Topic]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cor pulmonale [HPO term]
- Cough [HPO term]
- Cyanosis [HPO term]
- Desquamative interstitial pneumonitis [HPO term]
- Failure to thrive [HPO term]
- Infantile onset [HPO term]
- Interstitial fibrosis [HPO term]
- Poor weight gain [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Respiratory distress [HPO term]
- Respiratory failure [HPO term]
- Tachypnea [HPO term]
- Tubulointerstitial fibrosis [HPO term]
- Type II pneumocyte hypertrophy [HPO term]
- progressive respiratory failure [HPO term]
Matching ORDO disease(s)
- Respiratory bronchiolitis-interstitial lung disease syndrome [ORDO Disease]
ORDO concept(s)
- Desquamative interstitial pneumonia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Desquamative Interstitial Pneumonia [NCIt concept]
- Desquamative interstitial pneumonia [ORDO Disease]
- Desquamative interstitial pneumonia [ICD-9 code]
- Desquamative interstitial pneumonia (disorder) [SNOMED CT concept]
- Desquamative interstitial pneumonitis [HPO term]
- Respiratory bronchiolitis interstitial lung disease [ICD-9 code]
- Respiratory bronchiolitis-interstitial lung disease syndrome [ORDO Disease]
- desquamative interstitial pneumonia [SNOMED Notion]
- desquamative interstitial pneumonia [Radlex concept]
- desquamative interstitial pneumonia [DO Concept]
- desquamative interstitial pneumonia [Disease (Nov.)]
- interstitial pneumonitis, desquamative, familial [MeSH Supplementary Concept]
- interstitial pneumonitis, desquamative, familial [MeSH concept]
Validated automatic mappings to NTBT
- desquamative interstitial pneumonia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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