279082008: Acromesomelic dysplasia group (disorder)

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

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia group (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia group (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia group (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia group (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia group (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group (disorder)
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia group (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acromesomelic dysplasia group (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Acromesomelic dysplasia group (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acromesomelic dysplasia group (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acromesomelic dysplasia group (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acromesomelic dysplasia group (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acromesomelic dysplasia group (disorder)	Finding site	Musculoskeletal structure of limb (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acromesomelic dysplasia group (disorder)	Is a	Disorder of limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acromesomelic dysplasia group (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acromesomelic dysplasia group (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acromesomelic dysplasia group (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acromesomelic dysplasia group (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acromesomelic dysplasia group (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acromesomelic dysplasia group (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acromesomelic dysplasia group (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acromesomelic dysplasia group (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acromesomelic dysplasia group (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acromicric dysplasia	Is a	True	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Saldino-Mainzer dysplasia	Is a	False	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cranioectodermal dysplasia	Is a	True	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I	Is a	False	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichorhinophalangeal syndrome	Is a	False	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Geleophysic dysplasia	Is a	True	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pseudohypoparathyroidism type I A	Is a	True	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrodysostosis	Is a	True	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Grebe syndrome	Is a	True	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Acromesomelic dysplasia Hunter-Thompson type (disorder)	Is a	True	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type B (disorder)	Is a	True	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type C	Is a	True	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type E	Is a	True	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.	Is a	True	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.	Is a	True	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies.	Is a	True	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Short stature, brachydactyly, obesity, global developmental delay syndrome	Is a	True	Acromesomelic dysplasia group (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
416204018	Acromesomelic dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
416205017	Acromesomelic dysplasia group	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
416206016	Acromesomelic dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
416207013	Acromesomelic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
672321019	Acromesomelic dysplasia group (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
416204018	Acromesomelic dysplasia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
416204018	Acromesomelic dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
416205017	Acromesomelic dysplasia group	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
416205017	Acromesomelic dysplasia group	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
416206016	Acromesomelic dwarfism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
416206016	Acromesomelic dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
416207013	Acromesomelic dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
416207013	Acromesomelic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
672321019	Acromesomelic dysplasia group (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
672321019	Acromesomelic dysplasia group (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5972851000241112	groupe de dysplasie acromésomélique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5972851000241112	groupe de dysplasie acromésomélique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module