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

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

\Deformity (finding)\Deformity of limb (finding)\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Deformity (finding)\Congenital deformity\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)

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

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

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

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Is a	Camptodactyly	true	Inferred relationship	Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Is a	Cleft palate	true	Inferred relationship	Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Is a	Mesomelic dysplasia	true	Inferred relationship	Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	Flexion deformity	false	Inferred relationship	Some	7
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Finding site	Musculoskeletal structure of digit of hand	false	Inferred relationship	Some	7
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	8
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	10
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	9
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Finding site	Finger structure	false	Inferred relationship	Some	9
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	9
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	10
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	8
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	8
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	6
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Finding site	Palatal structure	false	Inferred relationship	Some	6
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Finding site	Structure of internal part of mouth	false	Inferred relationship	Some	10
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Finding site	Palatal structure	true	Inferred relationship	Some	1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Finding site	Palatal structure	false	Inferred relationship	Some	2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Finding site	Finger structure	false	Inferred relationship	Some	3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	Flexion deformity	false	Inferred relationship	Some	2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Finding site	Musculoskeletal structure of digit of hand	false	Inferred relationship	Some	2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Some	3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Clinical course	Progressive (qualifier value)	false	Inferred relationship	Some	4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	Fixed flexion deformity (morphologic abnormality)	true	Inferred relationship	Some	2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Finding site	Musculoskeletal system structure of digit (body structure)	true	Inferred relationship	Some	2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	5
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	5
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Finding site	Bone structure of head	false	Inferred relationship	Some	5
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Interprets	Height / growth measure	false	Inferred relationship	Some	6
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Interprets	Limb length	true	Inferred relationship	Some	4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Finding site	Bone structure of extremity	true	Inferred relationship	Some	3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some

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 (core metadata concept)	SNOMED CT core
3302740019	Mesomelic dysplasia with cleft palate and camptodactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302742010	Reardon Hall Slaney syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
14006081000172110	syndrome de nanisme mésomélique, fente palatine et camptodactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14006091000172113	syndrome de Reardon-Hall-Slaney	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5165831000172111	syndroom van Reardon-Hall-Slaney	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5165841000172116	mesomele dysplasie Reardon-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5165851000172119	mesomele dwerggroei type Kozlowski-Reardon	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5165861000172117	syndroom van mesomele dysplasie, palatoschisis en camptodactylie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)