82699004: Dyggve-Melchior-Clausen syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Body measurement finding\Height / growth finding\General finding of height\...
• \Body height below reference range\Short stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Lesion of bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Dyggve-Melchior-Clausen syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dyggve-Melchior-Clausen syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dyggve-Melchior-Clausen syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Dyggve-Melchior-Clausen syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\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
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
1234728017	Dyggve-Melchior-Clausen dysplasia	en	Synonym (core metadata concept)	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5155293018	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 intellectual disability 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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5447452017	A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5447453010	A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterised by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalised platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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