FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

32958008: Congenital micrognathism (disorder)


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

Descriptions:

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
1497071000005113 Kongenit mikrognati da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


13 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital micrognathism Is a væsentlig anomali af kæbestørrelse false Inferred relationship Some
Congenital micrognathism Is a Congenital anomaly of digestive system false Inferred relationship Some
Congenital micrognathism Is a kongenit anomali i respirationssystemet 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 kongenit hypoplasi false Inferred relationship Some 1
Congenital micrognathism Occurrence Congenital false Inferred relationship Some
Congenital micrognathism Finding site struktur af bruskvæv 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 kongenit anomali 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 kongenit hypoplasi 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 kongenit anomali 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 true 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
Kongenit mandibulahypoplasi Is a False Congenital micrognathism Inferred relationship Some
Mikrognati, uspecificeret Is a False Congenital micrognathism Inferred relationship Some
Cerebro-costo-mandibular syndrome Is a True Congenital micrognathism Inferred relationship Some
Congenital transverse mandibular hypoplasia 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, and hypertriglyceridemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13. Is a True Congenital micrognathism Inferred relationship Some
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of micrognathia, 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 with characteristics of 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. Caused by homozygous mutation in the GSC gene on chromosome 14q32. 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

Back to Start