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

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\trouble métabolique\maladie métabolique de l'os\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid metabolism\Disorder of cholesterol metabolism\Disorder of cholesterol synthesis\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\Disorder of cholesterol synthesis\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1778432019	Chondrodysplasia punctata, X-linked dominant type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4594527011	Conradi Hünermann Happle syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4594528018	X-linked chondrodysplasia punctata type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4594529014	Chondrodystrophia calcificans congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4594530016	Happle syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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