771013004: Pilotto syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Digestive system finding\Finding of mouth region\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome

\General finding of soft tissue\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\General finding of soft tissue\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome

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

\Finding of head region\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Pilotto syndrome
\Finding of head region\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Finding of head region\Finding of mouth region\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Finding of head region\Finding of mouth region\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Finding of head region\Finding of face\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Finding of head region\Finding of face\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Finding of head region\Finding of face\Disorder of face\Lesion of face\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pilotto syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Pilotto syndrome

\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Disorder of face\Lesion of face\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pilotto syndrome
\Disorder of head\Disorder of face\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Disorder of face\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pilotto syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Pilotto syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome

\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Disorder of face\Lesion of face\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pilotto syndrome
\Disease\Disorder of head\Disorder of face\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Disorder of face\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pilotto syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Pilotto syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pilotto syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Pilotto syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pilotto syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Pilotto syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3704031015 Pilotto syndrome en Synonym Active Case sensitive SNOMED CT core
3704032010 Pilotto syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3704033017 A rare genetic multiple developmental anomalies syndrome with characteristics of craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975. en Definition Inactive Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pilotto syndrome	Finding site	Palatal structure	true	Inferred relationship	Some	1
Pilotto syndrome	Finding site	Lip structure	true	Inferred relationship	Some	2
Pilotto syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Pilotto syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Pilotto syndrome	Finding site	Bone structure of head	false	Inferred relationship	Some	3
Pilotto syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	3
Pilotto syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
Pilotto syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Pilotto syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	1
Pilotto syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Pilotto syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	2
Pilotto syndrome	Is a	Cleft palate with cleft lip	true	Inferred relationship	Some
Pilotto syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Pilotto syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3704031015	Pilotto syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3704032010	Pilotto syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3704033017	A rare genetic multiple developmental anomalies syndrome with characteristics of craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975.	en	Definition	Inactive	Case sensitive	SNOMED CT core