82699004: autosomaal recessief Dyggve-Melchior-Clausen-syndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\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

\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)\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\Skeletal dysplasia\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
\Disease\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyggve-Melchior-Clausen syndrome
\Disease\Disorder of foetus and/or newborn\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\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)\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 dysplasia (disorder)\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal 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

6623311000146113 syndroom van Dyggve-Melchior-Clausen nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6623331000146118 DMC-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6623351000146112 ziekte van Dyggve-Melchior-Clausen nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6623361000146110 Dyggve-Melchior-Clausen-dysplasie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11315161000146113 autosomaal recessief Dyggve-Melchior-Clausen-syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11315171000146119 autosomaal recessief Dyggve-Melchior-Clausen-syndroom (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 Entire term case sensitive (core metadata concept) SNOMED CT core

13083001000146119 Zeer zeldzaam syndroom met als kenmerken onder meer dwerggroei en een verstandelijke beperking; de ziekte wordt veroorzaakt door mutaties in het gen DYM (18q21.1). nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	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
Dyggve-Melchior-Clausen syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Dyggve-Melchior-Clausen syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Dyggve-Melchior-Clausen syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	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	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Dyggve-Melchior-Clausen syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Dyggve-Melchior-Clausen syndrome	Pathological process (attribute)	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
6623311000146113	syndroom van Dyggve-Melchior-Clausen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6623331000146118	DMC-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6623351000146112	ziekte van Dyggve-Melchior-Clausen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6623361000146110	Dyggve-Melchior-Clausen-dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11315161000146113	autosomaal recessief Dyggve-Melchior-Clausen-syndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11315171000146119	autosomaal recessief Dyggve-Melchior-Clausen-syndroom (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core
13083001000146119	Zeer zeldzaam syndroom met als kenmerken onder meer dwerggroei en een verstandelijke beperking; de ziekte wordt veroorzaakt door mutaties in het gen DYM (18q21.1).	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)