721975004: Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)

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

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)

\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 (disorder)
\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)

\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 (disorder)

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

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

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

3323104014 Epiphyseal dysplasia, microcephalus, nystagmus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323105010 Lowry Wood syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402752012 A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402753019 A rare disorder characterised by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. 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
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Is a	Microcephalus	false	Inferred relationship	Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Is a	Multiple epiphyseal dysplasia	true	Inferred relationship	Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Is a	Short stature disorder	false	Inferred relationship	Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	3
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	3
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Finding site	Structure of epiphysis	false	Inferred relationship	Some	4
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Finding site	Structure of epiphysis	true	Inferred relationship	Some	2
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Is a	Chronic brain syndrome	false	Inferred relationship	Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	5
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1

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
3323103015	Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323104014	Epiphyseal dysplasia, microcephalus, nystagmus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323105010	Lowry Wood syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402752012	A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402753019	A rare disorder characterised by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core