719837003: X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\X-linked dominant chondrodysplasia Chassaing Lacombe type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\X-linked dominant chondrodysplasia Chassaing Lacombe type

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3318109015	X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3318110013	X-linked dominant chondrodysplasia Chassaing Lacombe type	en	Synonym	Active	Case sensitive	SNOMED CT core
3318111012	A rare genetic bone disorder with characteristics of chondrodysplasia, intrauterine growth retardation, hydrocephaly and facial dysmorphism in the affected males. The disease is severe and probably lethal in males, the clinical picture in females is less severe. The disease is due to a mutation in the histone deacetylase 6 HDAC6 gene (Xp11.3-q13.1) that causes a nucleotide substitution in the 3' untranslated region (UTR) of the HDAC6 transcript. This mutation lies in the seed sequence of microRNA-433 (hsa-miR-433) and abolishes the post-transcriptional regulation of HDAC6 expression by hsa-miR-433, resulting in the overexpression of the HDAC6 protein. Inheritance is X-linked dominant.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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