chondrodysplasia punctata

Preferred Label : chondrodysplasia punctata;

MeSH definition : A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.;

MeSH synonym : chondrodystrophia calcificans congenita; stippled epiphyses; epiphyses, stippled; dysplasia epiphysialis punctata;

CISMeF synonym : Syndrome, Conradi-Hunermann-Happle; Syndrome, Conradi-Hünermann; Syndromes, Conradi-Hunermann-Happle; syndrome, Conradi-Hunermann; syndrome, Conradi-Hünermann-Happle; syndrome, Hunermann-Conradi; syndrome, happle; syndromes, Conradi-Hünermann; syndromes, Conradi-Hünermann-Happle;

DeCS synonym : Conradi-H nermann Syndromes; Conradi-H nermann-Happle Syndromes; Conradi H nermann Syndrome; Conradi-H nermann-Happle Syndrome; Conradi H nermann Happle Syndrome; Conradi-H nermann Syndrome;

Related MeSH term : Hunermann-Conradi syndrome; Hunermann Conradi Syndrome; Conradi-Hunermann Syndrome; Conradi Hunermann Syndrome; Conradi Hunermann Happle Syndrome; Happle Syndrome; X-Linked Dominant Chondrodysplasia Punctata; X Linked Dominant Chondrodysplasia Punctata; X-Linked Chondrodysplasia Punctata 2; X Linked Chondrodysplasia Punctata 2; Chondrodysplasia Punctata 2, X-Linked; Chondrodysplasia Punctata 2, X Linked; Conradi-Hünermann Syndrome; Conradi Hünermann Syndrome; Conradi-Hünermann Syndromes; Conradi-Hünermann-Happle Syndrome; Conradi Hünermann Happle Syndrome; Conradi-Hünermann-Happle Syndromes; Chondrodysplasia Punctata 2, X-Linked Dominant; Chondrodysplasia Punctata 2, X Linked Dominant; Conradi-Hunermann-Happle Syndrome; Conradi-Hunermann-Happle Syndromes;

MeSH annotation : spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available;

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

Details

Origin ID

D002806;

UMLS CUI

C0008445;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [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)
- Chondrodysplasia punctata [MedDRA Preferred Term]
- Chondrodysplasia punctata 2, X-linked dominant [OMIM Phenotype]
- Chondrodysplasia punctata congenita (disorder) [SNOMED CT concept]
- Chondrodysplasia punctata, Sheffield type [ICD-11 More detail]
- Chondrodysplasia punctata, autosomal dominant [OMIM Phenotype]
- Chondrodysplasia punctata, tibia-metacarpal type [OMIM Phenotype]
- Chondrodysplasia punctata, tibial-metacarpal type [ICD-11 More detail]
- Chondrodysplasia punctata, tibial-metacarpal type [ORDO Disease]
- Epiphyseal stippling [HPO term]
- X-linked chondrodysplasia punctata 1 [DO Concept]
- X-linked chondrodysplasia punctata 2 [DO Concept]
- chondrodysplasia punctata, conradi-hunermann type [SNOMED Notion]
Currated CISMeF NLP mapping
- Chondrodysplasia Punctata [NCIt concept]
- Chondrodysplasia punctata [PASCAL descriptor]
- Chondrodysplasia punctata [ICD-10 Sub-category]
- Chondrodysplasia punctata [ICD-11 Sub-sub category]
- Chondrodysplasia punctata [ICD-10 Sub-category (who)]
- Chondrodysplasia punctata [ORDO Disease]
- Chondrodysplasia punctata (disorder) [Inactive SNOMED CT concept]
- Chondrodysplasia punctata (stippled epiphyses) group (disorder) [SNOMED CT concept]
- chondrodysplasia punctata [DO Concept]
- chondrodysplasia punctata [Disease (Nov.)]
- chondrodysplasia punctata, nos [SNOMED Notion]
DO Cross reference
- chondrodysplasia punctata [DO Concept]
False UMLS correspondences (reviewed by CISMeF team)
- chondrodysplasia punctata, conradi-hunermann type [SNOMED Notion]
False automatic mappings
- Chondrodysplasia punctata, Conradi-Hünermann type (disorder) [SNOMED CT concept]
- Chondrodysplasia punctata, Sheffield type [ORDO Disease]
- X-linked dominant chondrodysplasia punctata [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Astley-Kendall dysplasia [ORDO Disease]
- Chondrodysplastic malformation syndrome [ORDO Disease]
- Dappled diaphyseal dysplasia [ORDO Disease]
- Developmental anomaly of metabolic origin [ORDO Disease]
- Greenberg dysplasia [ORDO Disease]
- Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly [ORDO Disease]
- Inherited ichthyosis [ORDO Disease]
- Musculoskeletal disease with cataract [ORDO Disease]
- Non-rhizomelic chondrodysplasia punctata [ORDO Disease]
- Rare bone disease [ORDO Disease]
- Rare genetic bone disease [ORDO Disease]
- Sterol biosynthesis disorder [ORDO Disease]
- Syndromic ichthyosis associated with ocular features [ORDO Disease]
ORDO relation(s)
- Chondrodysplasia punctata [ORDO Disease]
Record concept(s)
- Hunermann-Conradi syndrome [MeSH concept]
- chondrodysplasia punctata [MeSH concept]
Related MeSH Supplementary Concept(s)
- Astley-Kendall syndrome [MeSH Supplementary Concept]
- Brachytelephalangic Chondrodysplasia Punctata [MeSH Supplementary Concept]
- X-Linked chondrodysplasia punctata 1 [MeSH Supplementary Concept]
- chondrodysplasia punctata syndrome [MeSH Supplementary Concept]
- chondrodysplasia punctata with coagulation factor deficiency [MeSH Supplementary Concept]
- chondrodysplasia punctata, Tibia-Metacarpal type [MeSH Supplementary Concept]
- chondrodysplasia punctata, autosomal dominant [MeSH Supplementary Concept]
- pacman dysplasia [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Chondrodysplasia punctata congenita (disorder) [SNOMED CT concept]
- Chondrodysplasia punctata syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondrodysplasia Punctata [NCIt concept]
- Chondrodysplasia punctata [ORDO Disease]
- Chondrodysplasia punctata [ICD-10 Sub-category]
- Chondrodysplasia punctata [ICD-10 Sub-category (who)]
- Chondrodysplasia punctata [PASCAL descriptor]
- Chondrodysplasia punctata [ICD-11 Sub-sub category]
- Chondrodysplasia punctata [MedDRA Preferred Term]
- Chondrodysplasia punctata (disorder) [Inactive SNOMED CT concept]
- Chondrodysplasia punctata (stippled epiphyses) group (disorder) [SNOMED CT concept]
- Chondrodysplasia punctata congenita (disorder) [SNOMED CT concept]
- chondrodysplasia punctata [DO Concept]
- chondrodysplasia punctata [Disease (Nov.)]
- chondrodysplasia punctata, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Chondrodysplasia punctata, Toriello type [ORDO Disease]
- Chondrodysplasia punctata, X-linked dominant [ICD-11 More detail]
- Conradi-Hunermann syndrome [Disease (Nov.)]

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