719021005: DK phocomelia syndrome (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3313363011	DK phocomelia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3313634018	Von Voss-Cherstvoy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3313635017	Phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3886831000052113	DK-fokomeli	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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