1172898008: Kosaki overgrowth syndrome (disorder)

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

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome (disorder)

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

\Disorder of skeletal system\Skeletal dysplasia\Kosaki overgrowth syndrome (disorder)

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Kosaki overgrowth syndrome (disorder)

\Disease\Genetic disease\Kosaki overgrowth syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Kosaki overgrowth syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Kosaki overgrowth syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Kosaki overgrowth syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Kosaki overgrowth syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Kosaki overgrowth syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Kosaki overgrowth syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Kosaki overgrowth syndrome (disorder)

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

4636385019 Kosaki overgrowth syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4636386018 Skeletal overgrowth, craniofacial dysmorphism, hyperelastic skin, white matter lesion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4636387010 Kosaki overgrowth syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4636388017 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip and pointed chin) hyperelastic, thin and fragile skin, lipodystrophy and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation and cerebrovascular complications among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13984731000172112 syndrome hypertrophique de Kosaki fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13984741000172117 syndrome d'hypercroissance, de dysmorphie craniofaciale, hyperélasticité de la peau et lésions de la substance blanche fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7389891000172116 overgroeisyndroom van Kosaki nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7389901000172117 syndroom van overgroei van skelet, craniofaciale dysmorfie, hyperelastische huid en wittestofafwijking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7389911000172119 syndroom van skeletale overgroei, craniofaciale dysmorfie, hyperelastische huid en wittestoflaesie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7389921000172112 Kosaki-overgroeisyndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Kosaki overgrowth syndrome (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Kosaki overgrowth syndrome (disorder)	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
Kosaki overgrowth syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Kosaki overgrowth syndrome (disorder)	Is a	Genetic disease	true	Inferred relationship	Some
Kosaki overgrowth syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Kosaki overgrowth syndrome (disorder)	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Kosaki overgrowth syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Kosaki overgrowth syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Kosaki overgrowth syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Kosaki overgrowth syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Kosaki overgrowth syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Kosaki overgrowth syndrome (disorder)	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
4636385019	Kosaki overgrowth syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636386018	Skeletal overgrowth, craniofacial dysmorphism, hyperelastic skin, white matter lesion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636387010	Kosaki overgrowth syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636388017	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip and pointed chin) hyperelastic, thin and fragile skin, lipodystrophy and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation and cerebrovascular complications among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13984731000172112	syndrome hypertrophique de Kosaki	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13984741000172117	syndrome d'hypercroissance, de dysmorphie craniofaciale, hyperélasticité de la peau et lésions de la substance blanche	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7389891000172116	overgroeisyndroom van Kosaki	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7389901000172117	syndroom van overgroei van skelet, craniofaciale dysmorfie, hyperelastische huid en wittestofafwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7389911000172119	syndroom van skeletale overgroei, craniofaciale dysmorfie, hyperelastische huid en wittestoflaesie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7389921000172112	Kosaki-overgroeisyndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)