254082007: Chondrodysplasia punctata, X-linked recessive type (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked recessive type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked recessive type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chondrodysplasia punctata, X-linked recessive type
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Chondrodysplasia punctata, X-linked recessive type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked recessive type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked recessive type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Developmental disorder\Developmental hereditary disorder\Chondrodysplasia punctata, X-linked recessive type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378235019 Chondrodysplasia punctata, X-linked recessive type en Synonym Active Initial character case insensitive SNOMED CT core

644924011 Chondrodysplasia punctata, X-linked recessive type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chondrodysplasia punctata, X-linked recessive type	Occurrence	Congenital	true	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Chondrodysplasia punctata, X-linked recessive type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Chondrodysplasia punctata, X-linked recessive type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Chondrodysplasia punctata, X-linked recessive type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Finding site	Bone structure	false	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Occurrence	Congenital	false	Inferred relationship	Some	2
Chondrodysplasia punctata, X-linked recessive type	Finding site	Bone structure	false	Inferred relationship	Some	2
Chondrodysplasia punctata, X-linked recessive type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Chondrodysplasia punctata, X-linked recessive type	Occurrence	Congenital	false	Inferred relationship	Some
Chondrodysplasia punctata, X-linked recessive type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Finding site	Bone structure	true	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Is a	Chondrodysplasia punctata	true	Inferred relationship	Some

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
378235019	Chondrodysplasia punctata, X-linked recessive type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
644924011	Chondrodysplasia punctata, X-linked recessive type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core