chondrodysplasia punctata, rhizomelic

Preferred Label : chondrodysplasia punctata, rhizomelic;

MeSH definition : An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497);

MeSH synonym : chondrodysplasia punctata, rhizomelic form; punctatas, rhizomelic chondrodysplasia; chondrodysplasia punctatas, rhizomelic; punctata, rhizomelic chondrodysplasia; rhizomelic chondrodysplasia punctatas; rhizomelic chondrodysplasia punctata;

MeSH annotation : a form of osteochondrodysplasia with stippled epiphyses; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Wikipedia link : https://en.wikipedia.org/wiki/Rhizomelic chondrodysplasia punctata;

Details

Origin ID

D018902;

UMLS CUI

C0282529;

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)
- Rhizomelic chondrodysplasia punctata [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Rhizomelic Chondrodysplasia Punctata [NCIt concept]
- Rhizomelic chondrodysplasia punctata [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata [ORDO Disease]
- Rhizomelic chondrodysplasia punctata syndrome (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata type 1 [ORDO Disease]
- rhizomelic chondrodysplasia punctata [DO Concept]
- rhizomelic chondrodysplasia punctata [Disease (Nov.)]
- rhizomelic chondrodysplasia punctata syndrome [SNOMED Notion]
DO Cross reference
- rhizomelic chondrodysplasia punctata [DO Concept]
Manual NTBT mappings (CISMeF)
- Chondrodysplastic malformation syndrome [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Musculoskeletal disease with cataract [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
ORDO relation(s)
- Rhizomelic chondrodysplasia punctata [ORDO Disease]
Record concept(s)
- chondrodysplasia punctata, rhizomelic [MeSH concept]
Related MeSH Supplementary Concept(s)
- rhizomelic chondrodysplasia punctata, type 1 [MeSH Supplementary Concept]
- rhizomelic chondrodysplasia punctata, type 2 [MeSH Supplementary Concept]
- rhizomelic chondrodysplasia punctata, type 3 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhizomelic Chondrodysplasia Punctata [NCIt concept]
- Rhizomelic chondrodysplasia punctata [ORDO Disease]
- Rhizomelic chondrodysplasia punctata [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata syndrome (disorder) [SNOMED CT concept]
- rhizomelic chondrodysplasia punctata [DO Concept]
- rhizomelic chondrodysplasia punctata [Disease (Nov.)]
- rhizomelic chondrodysplasia punctata syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Rhizomelic chondrodysplasia punctata type 1 [ORDO Disease]
- Rhizomelic chondrodysplasia punctata, type 1 [OMIM Phenotype]
- rhizomelic chondrodysplasia punctata type 1 [DO Concept]

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