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

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Encephalocele\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalocele\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)

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

\Finding of brain\Disorder of brain (disorder)\Encephalocele\Occipital encephalocele\Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)

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

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

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3725613019 Lethal occipital encephalocele, skeletal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

927141000172113 syndrome létal d'encéphalocèle occipital-dysplasie squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3725612012	Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725613019	Lethal occipital encephalocele, skeletal dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
927141000172113	syndrome létal d'encéphalocèle occipital-dysplasie squelettique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module