721975004: Epiphyseal dysplasia, microcephalus, nystagmus 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\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Microcephaly\Congenital microcephaly\Epiphyseal dysplasia, microcephalus, nystagmus syndrome

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Epiphyseal dysplasia, microcephalus, nystagmus 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\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome

\Finding of head circumference\Microcephaly\Congenital microcephaly\Epiphyseal dysplasia, microcephalus, nystagmus syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Epiphyseal dysplasia, microcephalus, nystagmus syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3323103015 Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3323104014 Epiphyseal dysplasia, microcephalus, nystagmus syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3323105010 Lowry Wood syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Is a	Multiple epiphyseal dysplasia	true	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Is a	Short stature disorder	false	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	3
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	3
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Finding site	Structure of epiphysis	false	Inferred relationship	Existential restriction modifier	4
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Finding site	Structure of epiphysis	true	Inferred relationship	Existential restriction modifier	2
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Is a	Chronic brain syndrome	false	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	3
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	4
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	5
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	5
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4

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
3323103015	Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3323104014	Epiphyseal dysplasia, microcephalus, nystagmus syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3323105010	Lowry Wood syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module