719166003: Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)

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\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\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\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\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\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3315232012 Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3315233019 Spondyloepimetaphyseal dysplasia matrilin-3 type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3315234013 Disease that has characteristics of disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. The syndrome has been described in a large consanguineous Arab Muslim family. It is caused by mutation in the matrilin-3 gene (MATN3, 2p24-p23) and transmitted in an autosomal recessive manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

887981000172116 SEMD type MATN3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

993771000172118 dysplasie spondylo-épimétaphysaire type matrilin-3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

869011000172116 spondylo-epimetafysaire dysplasie, matrilin-3 type nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1003911000172115 SEMD (spondylo-epimetafysaire dysplasie) , MATN3 (spondylo-epimetafysaire dysplasie, matrilin-3 type)-gerelateerd nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	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

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Id	Description	Lang	Type	Status	Case?	Module
3315232012	Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315233019	Spondyloepimetaphyseal dysplasia matrilin-3 type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315234013	Disease that has characteristics of disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. The syndrome has been described in a large consanguineous Arab Muslim family. It is caused by mutation in the matrilin-3 gene (MATN3, 2p24-p23) and transmitted in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
887981000172116	SEMD type MATN3	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
993771000172118	dysplasie spondylo-épimétaphysaire type matrilin-3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
869011000172116	spondylo-epimetafysaire dysplasie, matrilin-3 type	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1003911000172115	SEMD (spondylo-epimetafysaire dysplasie) , MATN3 (spondylo-epimetafysaire dysplasie, matrilin-3 type)-gerelateerd	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)