719397009: Mesomelic dysplasia Kantaputra type (disorder)

SNOMED CT Concept\Clinical finding (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 (disorder)

\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 (disorder)

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Only initial character case insensitive (core metadata concept) SNOMED CT core

3314813018 Mesomelic dysplasia Kantaputra type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3314814012 Kantaputra mesomelic dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3316210012 Mesomelic dysplasia Thai type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3902511000052110 mesomel dysplasi, Kantaputratyp sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3314812011	Mesomelic dysplasia Kantaputra type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3314813018	Mesomelic dysplasia Kantaputra type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3314814012	Kantaputra mesomelic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316210012	Mesomelic dysplasia Thai type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3902511000052110	mesomel dysplasi, Kantaputratyp	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)