398958000: Chondrodysplasia punctata, X-linked dominant type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Chondrodysplasia punctata, X-linked dominant type
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
• \Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Chondrodysplasia punctata, X-linked dominant type
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked dominant type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Chondrodysplasia punctata, X-linked dominant type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant 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 punctata\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Metabolic disease\Metabolic bone disease\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipid metabolism disorder\Disorder of cholesterol metabolism\Disorder of cholesterol synthesis\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Disorder of cholesterol synthesis\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Developmental disorder\Developmental hereditary disorder\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type

Status: current, Primitive. Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1766878011	Chondrodysplasia punctata, X-linked dominant type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
1778432019	Chondrodysplasia punctata, X-linked dominant type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4594527011	Conradi Hünermann Happle syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4594528018	X-linked chondrodysplasia punctata type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
4594529014	Chondrodystrophia calcificans congenita	en	Synonym	Active	Case insensitive	SNOMED CT core
4594530016	Happle syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4594531017	A rare genodermatosis disease with great phenotypic variation and most common characteristic of ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Caused by mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyzes the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol biosynthesis pathway. A deficiency in EBP leads to the accumulation of 8-dehydrocholesterol (8DHC) and 8(9)-cholestenol in the skin, plasma and other body tissues.	en	Definition	Active	Case sensitive	SNOMED CT core
4594532012	A rare genodermatosis disease with great phenotypic variation and most common characteristic of ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Caused by mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyses the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol biosynthesis pathway. A deficiency in EBP leads to the accumulation of 8-dehydrocholesterol (8DHC) and 8(9)-cholestenol in the skin, plasma and other body tissues.	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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