719021005: DK phocomelia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Von Voss-Cherstvoy syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Von Voss-Cherstvoy syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Von Voss-Cherstvoy syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Von Voss-Cherstvoy syndrome
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Von Voss-Cherstvoy syndrome
• \Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Von Voss-Cherstvoy syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Von Voss-Cherstvoy syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Von Voss-Cherstvoy syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Von Voss-Cherstvoy syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Von Voss-Cherstvoy syndrome
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Von Voss-Cherstvoy syndrome
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Von Voss-Cherstvoy syndrome
• \Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Skull finding\Disorder of skull\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disorder of head\Disorder of skull\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Functional finding\Disorder of haemostatic system\Platelet disorder\...
• \Thrombocytopenia\Congenital thrombocytopenia\Von Voss-Cherstvoy syndrome
• \Thrombocytopenia\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Inherited platelet disorder\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Von Voss-Cherstvoy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Von Voss-Cherstvoy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Von Voss-Cherstvoy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Von Voss-Cherstvoy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Von Voss-Cherstvoy syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Von Voss-Cherstvoy syndrome
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Congenital disease\Congenital thrombocytopenia\Von Voss-Cherstvoy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Von Voss-Cherstvoy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Von Voss-Cherstvoy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Von Voss-Cherstvoy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Von Voss-Cherstvoy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Von Voss-Cherstvoy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Von Voss-Cherstvoy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Encephalocele\Von Voss-Cherstvoy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Von Voss-Cherstvoy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Von Voss-Cherstvoy syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3313362018	DK phocomelia syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3313363011	DK phocomelia syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3313634018	Von Voss-Cherstvoy syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3313635017	Phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3314615010	A very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities and thrombocytopenia. Less than 15 cases have been reported. The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal. Pathogenesis and cause of this syndrome are unknown. Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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