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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cono-spondylar dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cono-spondylar dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\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 anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Cono-spondylar dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Cono-spondylar dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Cono-spondylar dysplasia
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Cono-spondylar dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Cono-spondylar dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Cono-spondylar dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Cono-spondylar dysplasia
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3662974014 Cono-spondylar dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3662975010 Cono-spondylar dysplasia en Synonym Active Case insensitive SNOMED CT core

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

3662977019 A rare genetic primary bone dysplasia disorder with characteristics of early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3662974014	Cono-spondylar dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3662975010	Cono-spondylar dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3662976011	Short stature, kyphosis, hypoplasia of basal ilia-cone epiphyses, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3662977019	A rare genetic primary bone dysplasia disorder with characteristics of early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.	en	Definition	Active	Case sensitive	SNOMED CT core