72855002: Congenital prognathism (disorder)

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

\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism
\Head finding (finding)\Finding of head region\Disorder of jaw (disorder)\Congenital anomaly of jaw\Congenital prognathism
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw (disorder)\Congenital anomaly of jaw\Congenital prognathism

\Musculoskeletal finding\Bone finding\Protrusion of bone\Congenital prognathism
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism
\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 face bones\Congenital prognathism
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\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 face bones\Congenital prognathism
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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 face bones\Congenital prognathism
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism
\Disease\Disorder of head (disorder)\Disorder of jaw (disorder)\Congenital anomaly of jaw\Congenital prognathism
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism
\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 face bones\Congenital prognathism

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital prognathism	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Congenital prognathism	Is a	Congenital anomaly of jaw	true	Inferred relationship	Some
Congenital prognathism	Is a	Dentofacial anomaly	false	Inferred relationship	Some
Congenital prognathism	Is a	Congenital anomaly of respiratory system	false	Inferred relationship	Some
Congenital prognathism	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Congenital prognathism	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Congenital prognathism	Associated morphology	Congenital forward deviation	false	Inferred relationship	Some	1
Congenital prognathism	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	1
Congenital prognathism	Occurrence	Congenital	false	Inferred relationship	Some
Congenital prognathism	Finding site	Jaw region structure	false	Inferred relationship	Some	1
Congenital prognathism	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Congenital prognathism	Finding site	Oral cavity structure	false	Inferred relationship	Some
Congenital prognathism	Finding site	Tooth structure	false	Inferred relationship	Some
Congenital prognathism	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Congenital prognathism	Is a	Deformity (finding)	false	Inferred relationship	Some
Congenital prognathism	Associated morphology	Congenital forward deviation	false	Inferred relationship	Some	1
Congenital prognathism	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	1
Congenital prognathism	Finding site	Jaw region structure	false	Inferred relationship	Some	1
Congenital prognathism	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Congenital prognathism	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Congenital prognathism	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital prognathism	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Congenital prognathism	Is a	Disorder of bone development (disorder)	false	Inferred relationship	Some
Congenital prognathism	Is a	Disorder of skull (disorder)	false	Inferred relationship	Some
Congenital prognathism	Finding site	Jaw region structure	false	Inferred relationship	Some	3
Congenital prognathism	Is a	Oral deformity of jaw (disorder)	false	Inferred relationship	Some
Congenital prognathism	Occurrence	Congenital	false	Inferred relationship	Some	4
Congenital prognathism	Associated morphology	Congenital protrusion	false	Inferred relationship	Some	4
Congenital prognathism	Finding site	Jaw region structure	false	Inferred relationship	Some	4
Congenital prognathism	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital prognathism	Associated morphology	Congenital deviation	false	Inferred relationship	Some	1
Congenital prognathism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital prognathism	Finding site	Bone structure of jaw (body structure)	true	Inferred relationship	Some	1
Congenital prognathism	Is a	Congenital anomaly of face bones	true	Inferred relationship	Some
Congenital prognathism	Associated morphology	Protrusion	true	Inferred relationship	Some	1
Congenital prognathism	Is a	Congenital abnormality of skull and face bones	false	Inferred relationship	Some
Congenital prognathism	Is a	Protrusion of bone	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Maxillary prognathism	Is a	False	Congenital prognathism	Inferred relationship	Some
Mandibular prognathism	Is a	False	Congenital prognathism	Inferred relationship	Some
Prognathism NOS	Is a	False	Congenital prognathism	Inferred relationship	Some
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.	Is a	True	Congenital prognathism	Inferred relationship	Some
A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.	Is a	True	Congenital prognathism	Inferred relationship	Some
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.	Is a	True	Congenital prognathism	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition.	Is a	True	Congenital prognathism	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
121005013	Congenital prognathism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
121007017	Prognathia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
121008010	Exognathia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
121009019	Progenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
121011011	Prognathism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
813178013	Congenital prognathism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233550014	Big jaw	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core