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

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome
\Deformity\Congenital deformity\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome

\Finding of limb structure\Deformity of limb\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome

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

\Finding of head region\Orofacial cleft\Cleft palate\Mesomelic dysplasia with cleft palate and camptodactyly syndrome
\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Mesomelic dysplasia with cleft palate and camptodactyly syndrome

\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Mesomelic dysplasia with cleft palate and camptodactyly syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Mesomelic dysplasia with cleft palate and camptodactyly syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Mesomelic dysplasia with cleft palate and camptodactyly 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\Mesomelic dysplasia with cleft palate and camptodactyly syndrome

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

\Hereditary disorder of musculoskeletal system\Mesomelic dysplasia with cleft palate and camptodactyly syndrome

\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome

\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome

\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome
\Congenital anomaly of musculoskeletal system\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

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

3302740019 Mesomelic dysplasia with cleft palate and camptodactyly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3302742010 Reardon Hall Slaney syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3302739016	Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3302740019	Mesomelic dysplasia with cleft palate and camptodactyly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3302742010	Reardon Hall Slaney syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module