719397009: Mesomelic dysplasia Kantaputra type (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia Kantaputra type

\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\Mesomelic dysplasia\Mesomelic dysplasia Kantaputra type

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Mesomelic dysplasia Kantaputra type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mesomelic dysplasia Kantaputra type
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Mesomelic dysplasia Kantaputra type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Kantaputra type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Mesomelic dysplasia Kantaputra type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Kantaputra type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia Kantaputra type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mesomelic dysplasia Kantaputra type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Mesomelic dysplasia Kantaputra type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Mesomelic dysplasia Kantaputra type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mesomelic dysplasia Kantaputra type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mesomelic dysplasia Kantaputra type
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Mesomelic dysplasia Kantaputra type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Kantaputra type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Mesomelic dysplasia Kantaputra type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Kantaputra type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia Kantaputra type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia Kantaputra type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Kantaputra type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia Kantaputra type
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Mesomelic dysplasia Kantaputra type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Mesomelic dysplasia Kantaputra type
\Disease\Developmental disorder\Developmental hereditary disorder\Mesomelic dysplasia Kantaputra type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia Kantaputra type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Kantaputra type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia Kantaputra type
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia Kantaputra type

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3314812011 Mesomelic dysplasia Kantaputra type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3314813018 Mesomelic dysplasia Kantaputra type en Synonym Active Initial character case insensitive SNOMED CT core

3314814012 Kantaputra mesomelic dysplasia en Synonym Active Case sensitive SNOMED CT core

3316210012 Mesomelic dysplasia Thai type en Synonym Active Initial character case insensitive SNOMED CT core

3316209019 A rare skeletal disease with characteristics of symmetric shortening of the middle segments of limbs and short stature. It has been described in five families. In the upper limbs, the ulnae are very short, and the radii are bowed. The distal humerus has a dumbbell shape. The hands show progressive flexion contractures of the proximal interphalangeal joints. In the lower limbs, feet are fixed in plantar flexion so that the patients walk on their toe tips. All affected patients have normal craniofacial features and intelligence. Two micro duplications have been identified on chromosome 2 (2q31.1-q31.2), separated by a segment of normal copy number. In all families, the condition is transmitted as an autosomal dominant trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mesomelic dysplasia Kantaputra type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Mesomelic dysplasia Kantaputra type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Mesomelic dysplasia Kantaputra type	Occurrence	Congenital	true	Inferred relationship	Some	1
Mesomelic dysplasia Kantaputra type	Finding site	Bone structure	true	Inferred relationship	Some	1
Mesomelic dysplasia Kantaputra type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Mesomelic dysplasia Kantaputra type	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Mesomelic dysplasia Kantaputra type	Clinical course	Progressive	true	Inferred relationship	Some	2
Mesomelic dysplasia Kantaputra type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Mesomelic dysplasia Kantaputra type	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Mesomelic dysplasia Kantaputra type	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Mesomelic dysplasia Kantaputra type	Is a	Mesomelic dysplasia	true	Inferred relationship	Some
Mesomelic dysplasia Kantaputra type	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Mesomelic dysplasia Kantaputra type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Mesomelic dysplasia Kantaputra type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Mesomelic dysplasia Kantaputra type	Occurrence	Congenital	false	Inferred relationship	Some	2
Mesomelic dysplasia Kantaputra type	Finding site	Bone structure	false	Inferred relationship	Some	2

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
3314812011	Mesomelic dysplasia Kantaputra type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3314813018	Mesomelic dysplasia Kantaputra type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3314814012	Kantaputra mesomelic dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
3316210012	Mesomelic dysplasia Thai type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3316209019	A rare skeletal disease with characteristics of symmetric shortening of the middle segments of limbs and short stature. It has been described in five families. In the upper limbs, the ulnae are very short, and the radii are bowed. The distal humerus has a dumbbell shape. The hands show progressive flexion contractures of the proximal interphalangeal joints. In the lower limbs, feet are fixed in plantar flexion so that the patients walk on their toe tips. All affected patients have normal craniofacial features and intelligence. Two micro duplications have been identified on chromosome 2 (2q31.1-q31.2), separated by a segment of normal copy number. In all families, the condition is transmitted as an autosomal dominant trait.	en	Definition	Active	Case sensitive	SNOMED CT core