32958008: Congenital micrognathism (disorder)

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

\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism
\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism
\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism
\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 anomaly of mandible\Congenital micrognathism
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism
\Head finding (finding)\Finding of head region\Disorder of jaw (disorder)\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism
\Head finding (finding)\Finding of head region\Disorder of jaw (disorder)\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism
\Head finding (finding)\Finding of head region\Disorder of jaw (disorder)\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism
\Head finding (finding)\Finding of head region\Disorder of jaw (disorder)\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw (disorder)\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw (disorder)\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw (disorder)\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw (disorder)\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism
\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 anomaly of mandible\Congenital micrognathism
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism
\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 anomaly of mandible\Congenital micrognathism
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism
\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 anomaly of mandible\Congenital micrognathism
\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 anomaly of mandible\Congenital micrognathism

\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 anomaly of mandible\Congenital micrognathism
\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 anomaly of mandible\Congenital micrognathism
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism
\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 anomaly of mandible\Congenital micrognathism
\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 anomaly of mandible\Congenital micrognathism
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism
\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 anomaly of mandible\Congenital micrognathism
\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 anomaly of mandible\Congenital micrognathism
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism
\Disease\Disorder of head (disorder)\Disorder of jaw (disorder)\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism
\Disease\Disorder of head (disorder)\Disorder of jaw (disorder)\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism
\Disease\Disorder of head (disorder)\Disorder of jaw (disorder)\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism
\Disease\Disorder of head (disorder)\Disorder of jaw (disorder)\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism
\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 anomaly of mandible\Congenital micrognathism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism
\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 anomaly of mandible\Congenital micrognathism

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital micrognathism	Is a	Major anomaly of jaw size	false	Inferred relationship	Some
Congenital micrognathism	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Congenital micrognathism	Is a	anomalie congénitale de l'appareil respiratoire	false	Inferred relationship	Some
Congenital micrognathism	Is a	Congenital anomaly of jaw	false	Inferred relationship	Some
Congenital micrognathism	Finding site	Oral cavity structure	false	Inferred relationship	Some
Congenital micrognathism	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	1
Congenital micrognathism	Occurrence	Congenital	false	Inferred relationship	Some
Congenital micrognathism	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Congenital micrognathism	Finding site	Jaw region structure	false	Inferred relationship	Some	1
Congenital micrognathism	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Congenital micrognathism	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Congenital micrognathism	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital micrognathism	Finding site	Tooth structure	false	Inferred relationship	Some
Congenital micrognathism	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Congenital micrognathism	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	1
Congenital micrognathism	Finding site	Jaw region structure	false	Inferred relationship	Some	1
Congenital micrognathism	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Congenital micrognathism	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Congenital micrognathism	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital micrognathism	Is a	Congenital anomaly of mandible	true	Inferred relationship	Some
Congenital micrognathism	Is a	Hypoplasia of mandibular bone (disorder)	true	Inferred relationship	Some
Congenital micrognathism	Associated morphology	Hypoplasia	false	Inferred relationship	Some	3
Congenital micrognathism	Finding site	Bone structure of mandible	false	Inferred relationship	Some	3
Congenital micrognathism	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital micrognathism	Finding site	Bone structure of mandible	true	Inferred relationship	Some	1
Congenital micrognathism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital micrognathism	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Congenital micrognathism	Is a	Craniofacial microsomia	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital maxillary hypoplasia	Is a	False	Congenital micrognathism	Inferred relationship	Some
Brachygnathism	Is a	False	Congenital micrognathism	Inferred relationship	Some
Congenital mandibular hypoplasia	Is a	False	Congenital micrognathism	Inferred relationship	Some
Micrognathism unspecified	Is a	False	Congenital micrognathism	Inferred relationship	Some
Cerebro-costo-mandibular syndrome	Is a	True	Congenital micrognathism	Inferred relationship	Some
Congenital transverse mandibular hypoplasia (disorder)	Is a	True	Congenital micrognathism	Inferred relationship	Some
Congenital vertical mandibular hypoplasia	Is a	True	Congenital micrognathism	Inferred relationship	Some
Congenital horizontal mandibular hypoplasia	Is a	True	Congenital micrognathism	Inferred relationship	Some
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.	Is a	True	Congenital micrognathism	Inferred relationship	Some
An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.	Is a	True	Congenital micrognathism	Inferred relationship	Some
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.	Is a	True	Congenital micrognathism	Inferred relationship	Some
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.	Is a	True	Congenital micrognathism	Inferred relationship	Some
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	Is a	True	Congenital micrognathism	Inferred relationship	Some
A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance.	Is a	True	Congenital micrognathism	Inferred relationship	Some
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.	Is a	True	Congenital micrognathism	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with preauricular pits/tags.	Is a	True	Congenital micrognathism	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging.	Is a	True	Congenital micrognathism	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
55014011	Congenital micrognathism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
55019018	Congenital micrognathia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
55020012	Micrognathism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
55021011	Micrognathia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
485369014	Small jaw	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
764302013	Congenital micrognathism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005399013	Micromandible	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005412019	Mandibular micrognathia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005415017	Congenital small mandible	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005417013	Congenital mandibular hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005424014	Mandibular micrognathism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005427019	Congenital hypoplasia of mandible	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
944641000195115	micrognatia congenita	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4496781000241111	micrognathisme congénital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
381431000274114	Angeborene Mikrognathie	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module