1169362009: overgroeisyndroom met translocatie van 2q37 (aandoening)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Overgrowth syndrome with 2q37 translocation

\Finding of general physiological development\Disorder of stature\Overgrowth syndrome with 2q37 translocation

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Disorder of skeletal system\Overgrowth syndrome with 2q37 translocation

\Congenital anomaly of musculoskeletal system\Overgrowth syndrome with 2q37 translocation

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Overgrowth syndrome with 2q37 translocation
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Overgrowth syndrome with 2q37 translocation
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Overgrowth syndrome with 2q37 translocation
\Disease\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal translocation\Overgrowth syndrome with 2q37 translocation
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Overgrowth syndrome with 2q37 translocation
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Overgrowth syndrome with 2q37 translocation
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Overgrowth syndrome with 2q37 translocation
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Overgrowth syndrome with 2q37 translocation
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Overgrowth syndrome with 2q37 translocation
\Disease\Developmental disorder\Disorder of stature\Overgrowth syndrome with 2q37 translocation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4607808019 Overgrowth syndrome with 2q37 translocation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4607809010 Overgrowth syndrome with 2q37 translocation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

13116681000146116 overgroeisyndroom met translocatie van 2q37 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13116691000146119 overgroeisyndroom met translocatie van 2q37 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13302261000146119 overgroeisyndroom met 2q37-translocatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

4607810017 A rare overgrowth syndrome with characteristics of long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibia and dysmorphic facial features (hypertelorism, high palate, or micrognathia) along with aortic root dilatation and umbilical hernia have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Overgrowth syndrome with 2q37 translocation	Is a	Disorder of stature	true	Inferred relationship	Some
Overgrowth syndrome with 2q37 translocation	Is a	Anomaly of chromosome pair 2	true	Inferred relationship	Some
Overgrowth syndrome with 2q37 translocation	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
Overgrowth syndrome with 2q37 translocation	Is a	Autosomal translocation	true	Inferred relationship	Some
Overgrowth syndrome with 2q37 translocation	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some
Overgrowth syndrome with 2q37 translocation	Is a	Disorder of skeletal system	true	Inferred relationship	Some
Overgrowth syndrome with 2q37 translocation	Interprets	Body height measure (observable entity)	true	Inferred relationship	Some	3
Overgrowth syndrome with 2q37 translocation	Has interpretation	Above reference range	true	Inferred relationship	Some	3
Overgrowth syndrome with 2q37 translocation	Occurrence	Congenital	true	Inferred relationship	Some	1
Overgrowth syndrome with 2q37 translocation	Finding site	Chromosome pair 2	true	Inferred relationship	Some	1
Overgrowth syndrome with 2q37 translocation	Associated morphology	Chromosomal translocation	true	Inferred relationship	Some	1
Overgrowth syndrome with 2q37 translocation	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Overgrowth syndrome with 2q37 translocation	Occurrence	Congenital	true	Inferred relationship	Some	2
Overgrowth syndrome with 2q37 translocation	Finding site	Skeletal system structure	true	Inferred relationship	Some	2
Overgrowth syndrome with 2q37 translocation	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Overgrowth syndrome with 2q37 translocation	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

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
4607808019	Overgrowth syndrome with 2q37 translocation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4607809010	Overgrowth syndrome with 2q37 translocation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13116681000146116	overgroeisyndroom met translocatie van 2q37	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13116691000146119	overgroeisyndroom met translocatie van 2q37 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13302261000146119	overgroeisyndroom met 2q37-translocatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4607810017	A rare overgrowth syndrome with characteristics of long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibia and dysmorphic facial features (hypertelorism, high palate, or micrognathia) along with aortic root dilatation and umbilical hernia have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core