773300008: syndrome de dysplasie spondylo-métaphysaire-hypotrichose (trouble)

• 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\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \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\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \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\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \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\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \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\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \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\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \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\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \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\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \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\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \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\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \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\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \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\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723037015	Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723038013	Whyte syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723039017	Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
771001000241117	syndrome de dysplasie spondylo-métaphysaire-hypotrichose (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
973951000172116	syndrome de dysplasie spondylo-métaphysaire-hypotrichose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3722997010	A rare primary bone dysplasia disorder with characteristics of congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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