715862006: Smith McCort dysplasia (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\Smith McCort dysplasia (disorder)

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Smith McCort dysplasia (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Smith McCort dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Smith McCort dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Smith McCort dysplasia (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\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (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\Smith McCort dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Smith McCort dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Smith McCort dysplasia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Smith McCort dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Smith McCort dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Smith McCort dysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\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\Smith McCort dysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Smith McCort dysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\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\Smith McCort dysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Smith McCort dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Smith McCort dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Smith McCort dysplasia (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\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (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\Smith McCort dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Smith McCort dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Smith McCort dysplasia (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Smith McCort dysplasia (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Smith McCort dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Smith McCort dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Smith McCort dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Smith McCort dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Smith McCort dysplasia (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Smith McCort dysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3303963013 Smith McCort dysplasia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3303964019 Smith McCort dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401140012 Smith-McCort dysplasia (SMC) is a rare spondyloepimetaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401141011 Smith-McCort dysplasia (SMC) is a rare spondyloepimetaphyseal dysplasia characterised by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalised platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Smith McCort dysplasia (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Smith McCort dysplasia (disorder)	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Some
Smith McCort dysplasia (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Smith McCort dysplasia (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Smith McCort dysplasia (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Smith McCort dysplasia (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Smith McCort dysplasia (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Smith McCort dysplasia (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Smith McCort dysplasia (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Smith McCort dysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Smith McCort dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Smith McCort dysplasia (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Smith McCort dysplasia (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Smith McCort dysplasia (disorder)	Interprets	Height / growth measure	false	Inferred relationship	Some	2
Smith McCort dysplasia (disorder)	Is a	Rhizomelic dysplasia (disorder)	true	Inferred relationship	Some
Smith McCort dysplasia (disorder)	Interprets	Limb length	true	Inferred relationship	Some	3
Smith McCort dysplasia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Smith McCort dysplasia (disorder)	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1
Smith McCort dysplasia (disorder)	Interprets	Body height measure (observable entity)	true	Inferred relationship	Some	2
Smith McCort dysplasia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3303963013	Smith McCort dysplasia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303964019	Smith McCort dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401140012	Smith-McCort dysplasia (SMC) is a rare spondyloepimetaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401141011	Smith-McCort dysplasia (SMC) is a rare spondyloepimetaphyseal dysplasia characterised by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalised platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core