| Descriptor English: | Chondrodysplasia Punctata | ||||||
| Descriptor Spanish: |
Condrodisplasia Punctata
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| Descriptor Portuguese: | Condrodisplasia Punctata | ||||||
| Descriptor French: | Chondrodysplasie ponctuée | ||||||
| Entry term(s): |
Chondrodysplasia Punctata 2, X Linked Chondrodysplasia Punctata 2, X Linked Dominant Chondrodysplasia Punctata 2, X-Linked Chondrodysplasia Punctata 2, X-Linked Dominant Chondrodystrophia Calcificans Congenita Conradi Hunermann Happle Syndrome Conradi Hunermann Syndrome Conradi Hünermann Happle Syndrome Conradi Hünermann Syndrome Conradi-Hunermann Syndrome Conradi-Hunermann-Happle Syndrome Conradi-Hunermann-Happle Syndromes Conradi-Hünermann Syndrome Conradi-Hünermann Syndromes Conradi-Hünermann-Happle Syndrome Conradi-Hünermann-Happle Syndromes Dysplasia Epiphysialis Punctata Epiphyses, Stippled Happle Syndrome Hunermann Conradi Syndrome Hunermann-Conradi Syndrome Stippled Epiphyses X Linked Chondrodysplasia Punctata 2 X Linked Dominant Chondrodysplasia Punctata X-Linked Chondrodysplasia Punctata 2 X-Linked Dominant Chondrodysplasia Punctata |
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| Tree number(s): |
C05.116.099.708.195 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D002806 | ||||||
| Scope note: | 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. |
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| Annotation: | spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CN congenital CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 1985; see CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1967-1984 |
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| History Note: | 1985(1964) |
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| DeCS ID: | 2856 | ||||||
| Unique ID: | D002806 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1967/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2016/01/20 |
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Chondrodysplasia Punctata
- Preferred
Hunermann-Conradi Syndrome
- Related but not broader or narrower
| Concept UI |
M0004308 |
| Scope note | 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. |
| Preferred term | Chondrodysplasia Punctata |
| Entry term(s) |
Chondrodystrophia Calcificans Congenita Dysplasia Epiphysialis Punctata Epiphyses, Stippled Stippled Epiphyses |
| Concept UI |
M0004309 |
| Preferred term | Hunermann-Conradi Syndrome |
| Entry term(s) |
Chondrodysplasia Punctata 2, X Linked Chondrodysplasia Punctata 2, X Linked Dominant Chondrodysplasia Punctata 2, X-Linked Chondrodysplasia Punctata 2, X-Linked Dominant Conradi Hunermann Happle Syndrome Conradi Hunermann Syndrome Conradi Hünermann Happle Syndrome Conradi Hünermann Syndrome Conradi-Hunermann Syndrome Conradi-Hunermann-Happle Syndrome Conradi-Hunermann-Happle Syndromes Conradi-Hünermann Syndrome Conradi-Hünermann Syndromes Conradi-Hünermann-Happle Syndrome Conradi-Hünermann-Happle Syndromes Happle Syndrome Hunermann Conradi Syndrome X Linked Chondrodysplasia Punctata 2 X Linked Dominant Chondrodysplasia Punctata X-Linked Chondrodysplasia Punctata 2 X-Linked Dominant Chondrodysplasia Punctata |
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