782882009: Chondrodysplasia with joint dislocations gPAPP type (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Bone finding\Disorder of bone\Bone injury\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Joint finding\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Joint finding\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Joint finding\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Joint finding\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Injury of musculoskeletal system\Bone injury\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Bone injury\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with joint dislocations gPAPP type

\Disease\Disorder of joint region\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of joint region\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of joint region\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Traumatic or non-traumatic injury\Nontraumatic injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Traumatic or non-traumatic injury\Injury of musculoskeletal system\Bone injury\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Traumatic or non-traumatic injury\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Musculoskeletal disorder\Injury of musculoskeletal system\Bone injury\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Musculoskeletal disorder\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Chondrodysplasia with joint dislocations gPAPP 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\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Bone injury\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Developmental disorder\Developmental hereditary disorder\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Chondrodysplasia with joint dislocations gPAPP type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with joint dislocations gPAPP type

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3756539016 Chondrodysplasia with joint dislocations gPAPP type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3756540019 Chondrodysplasia with joint dislocations gPAPP type en Synonym Active Initial character case insensitive SNOMED CT core

3756542010 A rare genetic primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12. en Definition Active Case sensitive SNOMED CT core

3756543017 A rare genetic primary bone dysplasia characterised by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centres and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chondrodysplasia with joint dislocations gPAPP type	Occurrence	Congenital	true	Inferred relationship	Some	1
Chondrodysplasia with joint dislocations gPAPP type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Chondrodysplasia with joint dislocations gPAPP type	Finding site	Bone structure	true	Inferred relationship	Some	1
Chondrodysplasia with joint dislocations gPAPP type	Is a	Multiple dislocations with dysplasia	true	Inferred relationship	Some
Chondrodysplasia with joint dislocations gPAPP type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Chondrodysplasia with joint dislocations gPAPP type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Chondrodysplasia with joint dislocations gPAPP type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Chondrodysplasia with joint dislocations gPAPP type	Is a	Chondrodysplasia	true	Inferred relationship	Some
Chondrodysplasia with joint dislocations gPAPP type	Finding site	Joint structure of multiple body sites	true	Inferred relationship	Some	2
Chondrodysplasia with joint dislocations gPAPP type	Associated morphology	Dislocation	true	Inferred relationship	Some	2
Chondrodysplasia with joint dislocations gPAPP type	Clinical course	Progressive	true	Inferred relationship	Some	3
Chondrodysplasia with joint dislocations gPAPP type	Due to	Spontaneous event	true	Inferred relationship	Some	4
Chondrodysplasia with joint dislocations gPAPP type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Chondrodysplasia with joint dislocations gPAPP type	Associated morphology	Damage	false	Inferred relationship	Some	5
Chondrodysplasia with joint dislocations gPAPP type	Is a	Bone injury	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

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3756539016	Chondrodysplasia with joint dislocations gPAPP type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3756540019	Chondrodysplasia with joint dislocations gPAPP type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3756542010	A rare genetic primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12.	en	Definition	Active	Case sensitive	SNOMED CT core
3756543017	A rare genetic primary bone dysplasia characterised by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centres and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12.	en	Definition	Active	Case sensitive	SNOMED CT core