| Descriptor English: | Achondroplasia | ||||||
| Descriptor Spanish: |
Acondroplasia
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| Descriptor Portuguese: | Acondroplasia | ||||||
| Descriptor French: | Achondroplasie | ||||||
| Entry term(s): |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Achondroplasias Dysplasia, SADDAN Dysplasias, SADDAN SADDAN SADDAN Dysplasia SADDAN Dysplasias SADDANs Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans Skeleton Skin Brain Syndrome Skeleton-Skin-Brain Syndrome Skeleton-Skin-Brain Syndromes Syndrome, Skeleton-Skin-Brain Syndromes, Skeleton-Skin-Brain |
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| Tree number(s): |
C05.116.099.343.110 C05.116.099.708.017 C16.320.240.500 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D000130 | ||||||
| Scope note: | An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification 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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| Related: |
Receptor, Fibroblast Growth Factor, Type 3
MeSH | ||||||
| DeCS ID: | 139 | ||||||
| Unique ID: | D000130 | ||||||
| NLM Classification: | WE 250 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1966/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2013/07/08 |
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Achondroplasia
- Preferred
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
- Related but not broader or narrower
| Concept UI |
M0000205 |
| Scope note | An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001) |
| Preferred term | Achondroplasia |
| Entry term(s) |
Achondroplasias |
| Concept UI |
M0567458 |
| Preferred term | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
| Entry term(s) |
Dysplasia, SADDAN Dysplasias, SADDAN SADDAN SADDAN Dysplasia SADDAN Dysplasias SADDANs Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans Skeleton Skin Brain Syndrome Skeleton-Skin-Brain Syndrome Skeleton-Skin-Brain Syndromes Syndrome, Skeleton-Skin-Brain Syndromes, Skeleton-Skin-Brain |
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