715471007: Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Camptodactyly\Reardon Hall Slaney syndrome
\Deformity\Congenital deformity\Camptodactyly\Reardon Hall Slaney syndrome

\Finding of limb structure\Deformity of limb\Camptodactyly\Reardon Hall Slaney syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Reardon Hall Slaney syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Reardon Hall Slaney syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Reardon Hall Slaney syndrome

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

\Finding of head region\Orofacial cleft\Cleft palate\Reardon Hall Slaney syndrome
\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Reardon Hall Slaney syndrome

\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Reardon Hall Slaney syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Reardon Hall Slaney syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Reardon Hall Slaney syndrome

\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\Reardon Hall Slaney syndrome

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Reardon Hall Slaney syndrome

\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Reardon Hall Slaney syndrome

\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Reardon Hall Slaney syndrome

\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Reardon Hall Slaney syndrome
\Congenital anomaly of musculoskeletal system\Camptodactyly\Reardon Hall Slaney syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Reardon Hall Slaney syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Reardon Hall Slaney syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Reardon Hall Slaney syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Reardon Hall Slaney syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Reardon Hall Slaney syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Reardon Hall Slaney syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Reardon Hall Slaney syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Reardon Hall Slaney syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Camptodactyly\Reardon Hall Slaney syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Reardon Hall Slaney syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Reardon Hall Slaney syndrome
\Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Reardon Hall Slaney syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Reardon Hall Slaney syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Reardon Hall Slaney syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Reardon Hall Slaney syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Camptodactyly\Reardon Hall Slaney syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Reardon Hall Slaney syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Reardon Hall Slaney syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Reardon Hall Slaney syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Camptodactyly\Reardon Hall Slaney syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Reardon Hall Slaney syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Reardon Hall Slaney syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Reardon Hall Slaney syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Reardon Hall Slaney syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Camptodactyly\Reardon Hall Slaney syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Reardon Hall Slaney syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Reardon Hall Slaney syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Reardon Hall Slaney syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Camptodactyly\Reardon Hall Slaney syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Reardon Hall Slaney syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Reardon Hall Slaney syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302739016 Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3302740019 Mesomelic dysplasia with cleft palate and camptodactyly syndrome en Synonym Active Case insensitive SNOMED CT core

3302742010 Reardon Hall Slaney syndrome en Synonym Active Case sensitive SNOMED CT core

3302743017 This syndrome manifests with mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Reardon Hall Slaney syndrome	Finding site	Finger structure	false	Inferred relationship	Some	3
Reardon Hall Slaney syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Reardon Hall Slaney syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	1
Reardon Hall Slaney syndrome	Associated morphology	Flexion deformity	false	Inferred relationship	Some	2
Reardon Hall Slaney syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Reardon Hall Slaney syndrome	Finding site	Musculoskeletal structure of digit of hand	false	Inferred relationship	Some	2
Reardon Hall Slaney syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	3
Reardon Hall Slaney syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Reardon Hall Slaney syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Reardon Hall Slaney syndrome	Finding site	Bone structure	false	Inferred relationship	Some	4
Reardon Hall Slaney syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Reardon Hall Slaney syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Reardon Hall Slaney syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Reardon Hall Slaney syndrome	Finding site	Skeletal system structure	true	Inferred relationship	Some	3
Reardon Hall Slaney syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Reardon Hall Slaney syndrome	Clinical course	Progressive	true	Inferred relationship	Some	4
Reardon Hall Slaney syndrome	Associated morphology	Fixed flexion deformity	true	Inferred relationship	Some	2
Reardon Hall Slaney syndrome	Finding site	Musculoskeletal structure of digit	true	Inferred relationship	Some	2
Reardon Hall Slaney syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	5
Reardon Hall Slaney syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	5
Reardon Hall Slaney syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Reardon Hall Slaney syndrome	Finding site	Bone structure of head	false	Inferred relationship	Some	5
Reardon Hall Slaney syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Reardon Hall Slaney syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	6
Reardon Hall Slaney syndrome	Is a	Camptodactyly	true	Inferred relationship	Some
Reardon Hall Slaney syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Reardon Hall Slaney syndrome	Is a	Cleft palate	true	Inferred relationship	Some
Reardon Hall Slaney syndrome	Is a	Mesomelic dysplasia	true	Inferred relationship	Some
Reardon Hall Slaney syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Reardon Hall Slaney syndrome	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Reardon Hall Slaney syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Reardon Hall Slaney syndrome	Associated morphology	Flexion deformity	false	Inferred relationship	Some	7
Reardon Hall Slaney syndrome	Finding site	Musculoskeletal structure of digit of hand	false	Inferred relationship	Some	7
Reardon Hall Slaney syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
Reardon Hall Slaney syndrome	Occurrence	Congenital	false	Inferred relationship	Some	10
Reardon Hall Slaney syndrome	Occurrence	Congenital	false	Inferred relationship	Some	9
Reardon Hall Slaney syndrome	Finding site	Finger structure	false	Inferred relationship	Some	9
Reardon Hall Slaney syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	9
Reardon Hall Slaney syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	10
Reardon Hall Slaney syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	8
Reardon Hall Slaney syndrome	Finding site	Bone structure	false	Inferred relationship	Some	8
Reardon Hall Slaney syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	6
Reardon Hall Slaney syndrome	Finding site	Palatal structure	false	Inferred relationship	Some	6
Reardon Hall Slaney syndrome	Finding site	Structure of internal part of mouth	false	Inferred relationship	Some	10
Reardon Hall Slaney syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	1
Reardon Hall Slaney syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Reardon Hall Slaney syndrome	Finding site	Palatal structure	true	Inferred relationship	Some	1
Reardon Hall Slaney syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	2
Reardon Hall Slaney syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Reardon Hall Slaney syndrome	Finding site	Palatal structure	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding 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
3302739016	Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302740019	Mesomelic dysplasia with cleft palate and camptodactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3302742010	Reardon Hall Slaney syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3302743017	This syndrome manifests with mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core