720954000: Filippi syndrome (disorder)

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Filippi syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Filippi syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Filippi syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Filippi syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Filippi syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Filippi syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Filippi syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Filippi syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Filippi syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Filippi syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Filippi syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Filippi syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Filippi syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Filippi syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Filippi syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Filippi syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Filippi syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Filippi syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Filippi syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Filippi syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Filippi syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Filippi syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Filippi syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Filippi syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Filippi syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Filippi syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Filippi syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Filippi syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Filippi syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Filippi syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Filippi syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Filippi syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Filippi syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Filippi syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Filippi syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Filippi syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Filippi syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Filippi syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Filippi syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Filippi syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Filippi syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Filippi syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Filippi syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Filippi syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Filippi syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3322624016 Filippi syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3322630016 Filippi syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3322631017 Type 1 syndactyly, microcephaly, intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Filippi syndrome	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Filippi syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Filippi syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Filippi syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Filippi syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Filippi syndrome	Is a	Dysostosis	true	Inferred relationship	Existential restriction modifier
Filippi syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Filippi syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Filippi syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Filippi syndrome	Is a	Syndactyly	true	Inferred relationship	Existential restriction modifier
Filippi syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Filippi syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Filippi syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	4
Filippi syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Filippi syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Filippi syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Filippi syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier	6
Filippi syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	6
Filippi syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	5
Filippi syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	5
Filippi syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	7
Filippi syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	7
Filippi syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Existential restriction modifier	4
Filippi syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	4
Filippi syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Filippi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Filippi syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Filippi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Filippi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Filippi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Filippi syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Filippi syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Filippi syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Filippi syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Filippi syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
Filippi syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	2
Filippi syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Filippi syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	2
Filippi syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Filippi syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Filippi syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
Filippi syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	5
Filippi syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	2
Filippi syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	5
Filippi syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	6
Filippi syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6
Filippi syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	7
Filippi syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322624016	Filippi syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3322630016	Filippi syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3322631017	Type 1 syndactyly, microcephaly, intellectual disability syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module