82699004: Dyggve-Melchior-Clausen syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen 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\Dyggve-Melchior-Clausen 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\Dyggve-Melchior-Clausen syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Dyggve-Melchior-Clausen syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen 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\Dyggve-Melchior-Clausen syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dyggve-Melchior-Clausen syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dyggve-Melchior-Clausen syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Dyggve-Melchior-Clausen syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen 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\Dyggve-Melchior-Clausen syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen 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\Dyggve-Melchior-Clausen syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1234728017	Dyggve-Melchior-Clausen dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
137189016	Dyggve-Melchior-Clausen syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
824175019	Dyggve-Melchior-Clausen syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3784135012	A rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasia. The disease has characteristics of progressive dwarfism with short trunk, protruding sternum, microcephaly and mental retardation of varying severity. Caused by mutations of the DYM gene (18q21.1). The large majority of mutations identified in the gene predict a loss of function of its product. DYM is expressed in the majority of tissue and codes for Dymeclin, a protein that interacts with membranes of the Golgi apparatus, but its role within the cell is still unknown. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Back to Start