1172633003: Camptodactyly syndrome Guadalajara type 3 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Deformity\Deformity of limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Deformity\Deformity of limb\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Deformity\Deformity of limb\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Deformity\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Deformity\Congenital deformity\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Deformity of limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Deformity of limb\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Deformity of limb\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger\Finding of musculoskeletal structure of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger\Disorder of finger\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Flexion deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \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\Camptodactyly syndrome Guadalajara type 3
• \Finding of head and neck region\Head finding\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\Camptodactyly syndrome Guadalajara type 3
• \Finding of head and neck region\Head finding\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\Camptodactyly syndrome Guadalajara type 3
• \Finding of head and neck region\Finding of neck region\Disorder of neck\Congenital anomaly of neck\Camptodactyly syndrome Guadalajara type 3
• \Musculoskeletal finding\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Genetic disease\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Camptodactyly syndrome Guadalajara type 3
• \Disease\Disorder of neck\Congenital anomaly of neck\Camptodactyly syndrome Guadalajara type 3
• \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\Camptodactyly syndrome Guadalajara type 3
• \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\Camptodactyly syndrome Guadalajara type 3
• \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\Camptodactyly syndrome Guadalajara type 3
• \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\Camptodactyly syndrome Guadalajara type 3
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \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\Camptodactyly syndrome Guadalajara type 3
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Camptodactyly syndrome Guadalajara type 3
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of neck\Camptodactyly syndrome Guadalajara type 3
• \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\Camptodactyly syndrome Guadalajara type 3
• \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\Camptodactyly syndrome Guadalajara type 3
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \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\Camptodactyly syndrome Guadalajara type 3
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly of finger\Camptodactyly syndrome Guadalajara type 3
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Camptodactyly syndrome Guadalajara type 3
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of neck\Camptodactyly syndrome Guadalajara type 3

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4634891012	Camptodactyly syndrome Guadalajara type 3 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4634892017	Camptodactyly syndrome Guadalajara type 3	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4634893010	A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age.	en	Definition	Active	Case sensitive	SNOMED CT core
4635743012	A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple naevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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