82699004: Dyggve-Melchior-Clausen syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\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

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\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 of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dyggve-Melchior-Clausen syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dyggve-Melchior-Clausen syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dyggve-Melchior-Clausen syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
\Disease\Congenital disease\Congenital anomaly\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\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 anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1234728017 Dyggve-Melchior-Clausen dysplasia en Synonym Active Case sensitive SNOMED CT core

137189016 Dyggve-Melchior-Clausen syndrome en Synonym Active Case sensitive SNOMED CT core

824175019 Dyggve-Melchior-Clausen syndrome (disorder) en Fully specified name Active Case sensitive 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 Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dyggve-Melchior-Clausen syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Dyggve-Melchior-Clausen syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Dyggve-Melchior-Clausen syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Dyggve-Melchior-Clausen syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Dyggve-Melchior-Clausen syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	Is a	Fibrochondrogenesis	false	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Dyggve-Melchior-Clausen syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Dyggve-Melchior-Clausen syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Dyggve-Melchior-Clausen syndrome	Finding site	Bone structure	false	Inferred relationship	Some	2
Dyggve-Melchior-Clausen syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Dyggve-Melchior-Clausen syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Dyggve-Melchior-Clausen syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Dyggve-Melchior-Clausen syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1234728017	Dyggve-Melchior-Clausen dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
137189016	Dyggve-Melchior-Clausen syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
824175019	Dyggve-Melchior-Clausen syndrome (disorder)	en	Fully specified name	Active	Case sensitive	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	Active	Case sensitive	SNOMED CT core