15182000: Coffin-Lowry syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Coffin-Lowry syndrome

\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Coffin-Lowry syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Coffin-Lowry syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Coffin-Lowry syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Coffin-Lowry syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Coffin-Lowry syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Coffin-Lowry syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Coffin-Lowry syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Coffin-Lowry syndrome

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Coffin-Lowry syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Coffin-Lowry syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Coffin-Lowry syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Coffin-Lowry syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Coffin-Lowry syndrome

\Musculoskeletal finding\Musculoskeletal disorder\...

\Disorder of skeletal system\Coffin-Lowry syndrome

\Congenital anomaly of musculoskeletal system\Coffin-Lowry syndrome

\Disease\Genetic disease\Coffin-Lowry syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Coffin-Lowry syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Coffin-Lowry syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Coffin-Lowry syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Coffin-Lowry syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Coffin-Lowry syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Coffin-Lowry syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Coffin-Lowry syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Coffin-Lowry syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Coffin-Lowry syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Coffin-Lowry syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Coffin-Lowry syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Coffin-Lowry syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Coffin-Lowry syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Coffin-Lowry syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Coffin-Lowry syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Coffin-Lowry syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Coffin-Lowry syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Coffin-Lowry syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Coffin-Lowry syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Coffin-Lowry syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Coffin-Lowry syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Coffin-Lowry syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Coffin-Lowry syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1221167013 CLS - Coffin-Lowry syndrome en Synonym Active Case sensitive SNOMED CT core

25776014 Coffin-Lowry syndrome en Synonym Active Case sensitive SNOMED CT core

741935018 Coffin-Lowry syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

5099890012 A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes. en Definition Active Case sensitive SNOMED CT core

5099891011 A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognised as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Coffin-Lowry syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Coffin-Lowry syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Coffin-Lowry syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Coffin-Lowry syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Coffin-Lowry syndrome	Finding site	Limb structure	false	Inferred relationship	Some	2
Coffin-Lowry syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Coffin-Lowry syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Coffin-Lowry syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Coffin-Lowry syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Coffin-Lowry syndrome	Is a	Global developmental delay	true	Inferred relationship	Some
Coffin-Lowry syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Coffin-Lowry syndrome	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some
Coffin-Lowry syndrome	Is a	Disorder of skeletal system	true	Inferred relationship	Some
Coffin-Lowry syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Coffin-Lowry syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Coffin-Lowry syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Coffin-Lowry syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Coffin-Lowry syndrome	Interprets	Body height measure	true	Inferred relationship	Some	6
Coffin-Lowry syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	6
Coffin-Lowry syndrome	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Coffin-Lowry syndrome	Is a	Congenital anomaly of hand	true	Inferred relationship	Some
Coffin-Lowry syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Coffin-Lowry syndrome	Finding site	Hand structure	true	Inferred relationship	Some	2
Coffin-Lowry syndrome	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Some
Coffin-Lowry syndrome	Is a	Encephalopathy	false	Inferred relationship	Some
Coffin-Lowry syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Coffin-Lowry syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Coffin-Lowry syndrome	Finding site	Limb structure	false	Inferred relationship	Some	3
Coffin-Lowry syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Coffin-Lowry syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	3
Coffin-Lowry syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Coffin-Lowry syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Coffin-Lowry syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Coffin-Lowry syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
Coffin-Lowry syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	3
Coffin-Lowry syndrome	Finding site	Limb structure	false	Inferred relationship	Some	3
Coffin-Lowry syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Coffin-Lowry syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Coffin-Lowry syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Coffin-Lowry syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Coffin-Lowry syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Coffin-Lowry syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Coffin-Lowry syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Coffin-Lowry syndrome	Finding site	Face structure	false	Inferred relationship	Some	4
Coffin-Lowry syndrome	Finding site	Limb structure	false	Inferred relationship	Some	5
Coffin-Lowry syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Coffin-Lowry syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Coffin-Lowry syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Coffin-Lowry syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
Coffin-Lowry syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some
Coffin-Lowry syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some

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
1221167013	CLS - Coffin-Lowry syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
25776014	Coffin-Lowry syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
741935018	Coffin-Lowry syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5099890012	A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	en	Definition	Active	Case sensitive	SNOMED CT core
5099891011	A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognised as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	en	Definition	Active	Case sensitive	SNOMED CT core