1187115008: Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\hypertrichose\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\polydactylie\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Congenital anomaly of limb\Polymelia\polydactylie\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\hypertrichose\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (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)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\hypertrichose\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (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\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (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\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\polydactylie\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Polymelia\polydactylie\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\polydactylie\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Polymelia\polydactylie\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4669928018	Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669929014	Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669930016	A rare genetic syndrome with limb malformations as a major feature with characteristics of preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray and syndactyly between digits I and II in the hands, large or duplicated hallux and syndactyly between toes I and II in the feet.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

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