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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Linear/nevoid/zosteriform Darier's disease (disorder) Occurrence False Congenital Inferred relationship Some 2
Mandibular prognathism Occurrence False Congenital Inferred relationship Some 1
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. Occurrence True Congenital Inferred relationship Some 3
Fanconi's anemia Occurrence True Congenital Inferred relationship Some 4
A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, cyanosis from birth is the only symptom. RCM type 2 is much more severe; the cyanosis is accompanied by neurological dysfunction (with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia), which usually becomes evident during the first four months of life. RCM type 1 is caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. RCM type 2 is caused by global loss of Cb5R function. RCM type 1 is generally associated with missense mutations, whereas RCM type 2 is more commonly associated with truncating mutations, splicing errors or mutations that lead to disruption of the active site. Occurrence True Congenital Inferred relationship Some 1
Type 2 is much more severe than Type I, cyanosis is accompanied by neurological dysfunction with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia, which usually becomes evident during the first four months of life. Caused by global loss of Cb5R function. Occurrence True Congenital Inferred relationship Some 1
In type 1 cyanosis from birth is the only symptom, it is well tolerated and is associated with mild complaints of headaches, fatigue and shortness of breath upon exertion. Caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. Occurrence True Congenital Inferred relationship Some 1
Congenital talipes calcaneovalgus Occurrence True Congenital Inferred relationship Some 1
Congenital conjunctival cyst Occurrence True Congenital Inferred relationship Some 1
Congenital cyst of posterior segment of eye Occurrence True Congenital Inferred relationship Some 1
Congenital cyst of esophagus Occurrence True Congenital Inferred relationship Some 1
Hypotrichosis with keratosis pilaris and lentiginosis Occurrence False Congenital Inferred relationship Some 1
Cyst of mesonephric duct (disorder) Occurrence True Congenital Inferred relationship Some 1
Peutz-Jeghers syndrome Occurrence True Congenital Inferred relationship Some 2
Peutz-Jeghers syndrome Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of Gartner's duct Occurrence True Congenital Inferred relationship Some 1
Manus valga Occurrence True Congenital Inferred relationship Some 1
Wolffian duct cyst - male Occurrence True Congenital Inferred relationship Some 1
Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa. Occurrence True Congenital Inferred relationship Some 1
Cyst of female mesonephric duct Occurrence True Congenital Inferred relationship Some 1
Peutz-Jeghers polyps of small bowel Occurrence True Congenital Inferred relationship Some 2
Peutz-Jeghers polyps of small bowel Occurrence True Congenital Inferred relationship Some 3
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities). Occurrence True Congenital Inferred relationship Some 2
Embryonic cyst of female genital structure Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of male genital structure (disorder) Occurrence True Congenital Inferred relationship Some 1
Manus vara Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of epoophoron Occurrence True Congenital Inferred relationship Some 1
Reticulate acropigmentation of Kitamura Occurrence True Congenital Inferred relationship Some 1
Centrofacial lentiginosis syndrome Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of vagina (disorder) Occurrence True Congenital Inferred relationship Some 1
Cyst of paramesonephric duct (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. Occurrence True Congenital Inferred relationship Some 2
Acquired abnormality of atrioventricular (not morphologically mitral or tricuspid) valve associated with atrioventricular septal defect Occurrence False Congenital Inferred relationship Some 2
Factor XI deficiency, type I Occurrence True Congenital Inferred relationship Some 2
Odontogenic keratocyst Occurrence True Congenital Inferred relationship Some 1
Hereditary factor IX deficiency disease with inhibitor (disorder) Occurrence True Congenital Inferred relationship Some 2
Naso-labial cyst Occurrence True Congenital Inferred relationship Some 1
Non-odontogenic developmental cyst of jaw Occurrence True Congenital Inferred relationship Some 1
Buccal bifurcation cyst Occurrence True Congenital Inferred relationship Some 1
Hereditary factor IX deficiency disease Occurrence True Congenital Inferred relationship Some 1
Median palatal cyst Occurrence True Congenital Inferred relationship Some 1
Moderate hereditary factor IX deficiency disease without inhibitor (disorder) Occurrence True Congenital Inferred relationship Some 2
Odontogenic cyst Occurrence False Congenital Inferred relationship Some 1
Severe hereditary factor IX deficiency disease without inhibitor (disorder) Occurrence True Congenital Inferred relationship Some 2
Gingival cyst of adult Occurrence True Congenital Inferred relationship Some 1
Mild hereditary factor IX deficiency disease without inhibitor (disorder) Occurrence True Congenital Inferred relationship Some 2
Cervical spinal meningocele Occurrence True Congenital Inferred relationship Some 1
Botryoid odontogenic cyst (disorder) Occurrence True Congenital Inferred relationship Some 1
Moderate hereditary factor IX deficiency disease with inhibitor (disorder) Occurrence True Congenital Inferred relationship Some 2
Lumbar spinal meningocele Occurrence True Congenital Inferred relationship Some 1
Mild hereditary factor IX deficiency disease with inhibitor (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital spinal hydromeningocele Occurrence False Congenital Inferred relationship Some 2
Naso-palatine duct cyst Occurrence True Congenital Inferred relationship Some 1
A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumour) that merges with the lower level of the spinal cord. Occurrence True Congenital Inferred relationship Some 3
Gingival cyst of neonate (disorder) Occurrence True Congenital Inferred relationship Some 1
hydroméningocèle crânienne congénitale Occurrence False Congenital Inferred relationship Some 4
Dentigerous cyst Occurrence True Congenital Inferred relationship Some 1
Lateral meningocele Occurrence True Congenital Inferred relationship Some 1
Congenital cerebral meningocele Occurrence False Congenital Inferred relationship Some 3
Severe hereditary factor IX deficiency disease with inhibitor (disorder) Occurrence True Congenital Inferred relationship Some 2
Factor XI deficiency, type II Occurrence True Congenital Inferred relationship Some 2
Extraosseous calcifying odontogenic cyst Occurrence True Congenital Inferred relationship Some 1
Factor XI deficiency, type III Occurrence True Congenital Inferred relationship Some 2
Median mandibular cyst Occurrence True Congenital Inferred relationship Some 1
Median anterior maxillary cyst Occurrence False Congenital Inferred relationship Some 1
Congenital meningocele Occurrence True Congenital Inferred relationship Some 1
Hereditary factor XI deficiency disease Occurrence True Congenital Inferred relationship Some 1
Hereditary factor IX deficiency disease without inhibitor (disorder) Occurrence True Congenital Inferred relationship Some 2
Globulo-maxillary cyst Occurrence True Congenital Inferred relationship Some 1
Lateral radicular cyst Occurrence False Congenital Inferred relationship Some 1
Embryonic cyst of omentum (disorder) Occurrence True Congenital Inferred relationship Some 1
Glandular odontogenic cyst Occurrence True Congenital Inferred relationship Some 1
Residual cyst (disorder) Occurrence False Congenital Inferred relationship Some 1
Eruption cyst of jaw Occurrence True Congenital Inferred relationship Some 1
Inflammatory odontogenic cyst Occurrence False Congenital Inferred relationship Some 1
Primordial cyst Occurrence True Congenital Inferred relationship Some 1
Lateral developmental cyst of jaw Occurrence True Congenital Inferred relationship Some 1
Radicular cyst Occurrence False Congenital Inferred relationship Some 1
Thoracic spinal meningocele Occurrence True Congenital Inferred relationship Some 1
Secondary megacolon - congenital Occurrence True Congenital Inferred relationship Some 1
Branchial cleft cyst Occurrence True Congenital Inferred relationship Some 1
A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioral problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent Occurrence True Congenital Inferred relationship Some 2
A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioral problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent Occurrence True Congenital Inferred relationship Some 1
5q31.3 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
5q31.3 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
5q31.3 microdeletion syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
X-linked acrogigantism Occurrence False Congenital Inferred relationship Some 2
X-linked acrogigantism Occurrence False Congenital Inferred relationship Some 1
15q13.3 microduplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital secondary hydronephrosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. Occurrence True Congenital Inferred relationship Some 2
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. Occurrence True Congenital Inferred relationship Some 1
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. Occurrence True Congenital Inferred relationship Some 3
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. Occurrence True Congenital Inferred relationship Some 4
Coloboma of retina Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation). Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transaminases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnormalities. Occurrence True Congenital Inferred relationship Some 1
Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (including macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. Occurrence True Congenital Inferred relationship Some 1
Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (including macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. Occurrence True Congenital Inferred relationship Some 2
Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. Occurrence True Congenital Inferred relationship Some 5
Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. Occurrence True Congenital Inferred relationship Some 2

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