773693005: Spondylo-megaepiphyseal-metaphyseal dysplasia (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\Spondylo-megaepiphyseal-metaphyseal dysplasia

\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Lesion of bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\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\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\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\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\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\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\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\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylo-megaepiphyseal-metaphyseal dysplasia
\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\Spondylo-megaepiphyseal-metaphyseal dysplasia
\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\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\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\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondylo-megaepiphyseal-metaphyseal dysplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3725806017 Spondylo-megaepiphyseal-metaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725808016 Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725807014 A rare genetic primary bone dysplasia with characteristics of disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay, markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed. There is evidence the disease is caused by homozygous inactivating mutations in the NKX3-2 gene on chromosome 4p15. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405386011 A rare, genetic primary bone dysplasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent pycnodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405387019 A rare, genetic primary bone dysplasia characterised by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent pycnodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed. 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
Spondylo-megaepiphyseal-metaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondylo-megaepiphyseal-metaphyseal dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spondylo-megaepiphyseal-metaphyseal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondylo-megaepiphyseal-metaphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondylo-megaepiphyseal-metaphyseal dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spondylo-megaepiphyseal-metaphyseal dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondylo-megaepiphyseal-metaphyseal dysplasia	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Some
Spondylo-megaepiphyseal-metaphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondylo-megaepiphyseal-metaphyseal dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Spondylo-megaepiphyseal-metaphyseal dysplasia	Interprets	Height / growth measure	false	Inferred relationship	Some	2
Spondylo-megaepiphyseal-metaphyseal dysplasia	Interprets	Body height (observable entity)	true	Inferred relationship	Some	2
Spondylo-megaepiphyseal-metaphyseal dysplasia	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)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3725806017	Spondylo-megaepiphyseal-metaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725808016	Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725807014	A rare genetic primary bone dysplasia with characteristics of disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay, markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed. There is evidence the disease is caused by homozygous inactivating mutations in the NKX3-2 gene on chromosome 4p15.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405386011	A rare, genetic primary bone dysplasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent pycnodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405387019	A rare, genetic primary bone dysplasia characterised by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent pycnodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core