723676007: Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Anorectal disorder\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Anorectal disorder\Disorder of anus\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Anorectal disorder\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Anorectal disorder\Disorder of anus\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Disorder of anal region\Disorder of anus\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Congenital anomaly of perineum\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Disorder of anus\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Disorder of anal region\Disorder of anus\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Congenital anomaly of perineum\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Disorder of anus\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Perineal finding\Disorder of perineum\Disorder of anal region\Disorder of anus\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Perineal finding\Disorder of perineum\Congenital anomaly of perineum\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Disorder of anal region\Disorder of anus\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Congenital anomaly of perineum\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Disorder of anus\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

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

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Anorectal disorder\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Anorectal disorder\Disorder of anus\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Disorder of anal region\Disorder of anus\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Congenital anomaly of perineum\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Disorder of anus\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3425523011 Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3425524017 Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome en Synonym Active Case insensitive SNOMED CT core

3425525016 This syndrome has characteristics of severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in chromosome regions on chromosome 1 and chromosome 14. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Finding site	Entire distal phalanx	true	Inferred relationship	Some	1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Finding site	Anal structure	true	Inferred relationship	Some	2
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Is a	Congenital anomaly of anus	true	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Is a	Epilepsy	true	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Is a	Congenital anomaly of digit	true	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Some	3
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	4
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Finding site	Entire distal phalanx	false	Inferred relationship	Some	4
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Finding site	Anal structure	false	Inferred relationship	Some	5
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3425523011	Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3425524017	Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3425525016	This syndrome has characteristics of severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in chromosome regions on chromosome 1 and chromosome 14.	en	Definition	Active	Case sensitive	SNOMED CT core