766874001: Cono-spondylar dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Cono-spondylar dysplasia
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Cono-spondylar dysplasia

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Cono-spondylar dysplasia
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Cono-spondylar dysplasia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Cono-spondylar dysplasia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Cono-spondylar dysplasia

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

\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\Cono-spondylar dysplasia

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cono-spondylar dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\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\Cono-spondylar dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cono-spondylar dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cono-spondylar dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cono-spondylar dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cono-spondylar dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cono-spondylar dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\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\Cono-spondylar dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Cono-spondylar dysplasia
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Cono-spondylar dysplasia
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Cono-spondylar dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Cono-spondylar dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Cono-spondylar dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Cono-spondylar dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Cono-spondylar dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Cono-spondylar dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Cono-spondylar dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Cono-spondylar dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Cono-spondylar dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Cono-spondylar dysplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3662974014 Cono-spondylar dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3662975010 Cono-spondylar dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3662976011 Short stature, kyphosis, hypoplasia of basal ilia-cone epiphyses, facial dysmorphism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cono-spondylar dysplasia	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Cono-spondylar dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Cono-spondylar dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Cono-spondylar dysplasia	Is a	Brachydactyly	true	Inferred relationship	Existential restriction modifier
Cono-spondylar dysplasia	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier
Cono-spondylar dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cono-spondylar dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Cono-spondylar dysplasia	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Existential restriction modifier
Cono-spondylar dysplasia	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	1
Cono-spondylar dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Cono-spondylar dysplasia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Cono-spondylar dysplasia	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier	1
Cono-spondylar dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Cono-spondylar dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Cono-spondylar dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Cono-spondylar dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cono-spondylar dysplasia	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	3

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
3662974014	Cono-spondylar dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3662975010	Cono-spondylar dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3662976011	Short stature, kyphosis, hypoplasia of basal ilia-cone epiphyses, facial dysmorphism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module