773672007: Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome

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

\Finding of brain\Encephalopathy\Congenital anomaly of brain\...

\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia syndrome

\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome

\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome

\Finding of head region\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome

\Cranial suture finding\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia syndrome

\Skull finding\Disorder of skull\Congenital anomaly of skull\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia 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\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Lethal occipital encephalocele, skeletal dysplasia 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\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia 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\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia 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\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Lethal occipital encephalocele, skeletal dysplasia 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\Lethal occipital encephalocele, skeletal dysplasia 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 anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia 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\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia 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\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia 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\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lethal occipital encephalocele, skeletal dysplasia 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\Lethal occipital encephalocele, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Lethal occipital encephalocele, skeletal dysplasia syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3725612012 Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3725613019 Lethal occipital encephalocele, skeletal dysplasia syndrome en Synonym Active Case insensitive SNOMED CT core

3725614013 A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. en Definition Active Case sensitive SNOMED CT core

3725615014 A rare genetic bone development disorder characterised by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralisation defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal occipital encephalocele, skeletal dysplasia syndrome	Is a	Occipital encephalocele	true	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Lethal occipital encephalocele, skeletal dysplasia syndrome	Is a	Congenital anomaly of bone and joint	true	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Lethal occipital encephalocele, skeletal dysplasia syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Lethal occipital encephalocele, skeletal dysplasia syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome	Finding site	Occipital lobe structure	false	Inferred relationship	Some	4
Lethal occipital encephalocele, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lethal occipital encephalocele, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Lethal occipital encephalocele, skeletal dysplasia syndrome	Associated morphology	Congenital failure of fusion with herniated tissue	false	Inferred relationship	Some	1
Lethal occipital encephalocele, skeletal dysplasia syndrome	Finding site	Bone structure	false	Inferred relationship	Some	3
Lethal occipital encephalocele, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Lethal occipital encephalocele, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Lethal occipital encephalocele, skeletal dysplasia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Lethal occipital encephalocele, skeletal dysplasia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	2
Lethal occipital encephalocele, skeletal dysplasia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome	Associated morphology	Congenital protrusion	false	Inferred relationship	Some	4
Lethal occipital encephalocele, skeletal dysplasia syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	2
Lethal occipital encephalocele, skeletal dysplasia syndrome	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Lethal occipital encephalocele, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Lethal occipital encephalocele, skeletal dysplasia syndrome	Associated morphology	Hernia	false	Inferred relationship	Some	4
Lethal occipital encephalocele, skeletal dysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Lethal occipital encephalocele, skeletal dysplasia syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Lethal occipital encephalocele, skeletal dysplasia syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	3
Lethal occipital encephalocele, skeletal dysplasia syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some	3
Lethal occipital encephalocele, skeletal dysplasia syndrome	Finding site	Occipital lobe structure	true	Inferred relationship	Some	3
Lethal occipital encephalocele, skeletal dysplasia syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	4
Lethal occipital encephalocele, skeletal dysplasia syndrome	Is a	Congenital anomaly of cerebrum	true	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome	Associated morphology	Protrusion	true	Inferred relationship	Some	3
Lethal occipital encephalocele, skeletal dysplasia syndrome	Finding site	Brain structure	true	Inferred relationship	Some	5
Lethal occipital encephalocele, skeletal dysplasia syndrome	Associated morphology	Hernia	true	Inferred relationship	Some	5
Lethal occipital encephalocele, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Lethal occipital encephalocele, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Lethal occipital encephalocele, skeletal dysplasia syndrome	Finding site	Structure of occipitomastoid suture of skull	true	Inferred relationship	Some	4
Lethal occipital encephalocele, skeletal dysplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome	Is a	Encephalocele	true	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	6
Lethal occipital encephalocele, skeletal dysplasia syndrome	Finding site	Bone structure of cranium	true	Inferred relationship	Some	6
Lethal occipital encephalocele, skeletal dysplasia syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	6
Lethal occipital encephalocele, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	6

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Id	Description	Lang	Type	Status	Case?	Module
3725612012	Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3725613019	Lethal occipital encephalocele, skeletal dysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3725614013	A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13.	en	Definition	Active	Case sensitive	SNOMED CT core
3725615014	A rare genetic bone development disorder characterised by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralisation defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13.	en	Definition	Active	Case sensitive	SNOMED CT core