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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
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation (disorder) Occurrence True Congenital Inferred relationship Some 2
An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. Occurrence True Congenital Inferred relationship Some 2
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Occurrence True Congenital Inferred relationship Some 3
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Occurrence True Congenital Inferred relationship Some 2
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Occurrence True Congenital Inferred relationship Some 4
Congenital pes cavus of right foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Occurrence True Congenital Inferred relationship Some 2
Tetralogy of Fallot Occurrence True Congenital Inferred relationship Some 3
Tetralogy of Fallot Occurrence True Congenital Inferred relationship Some 4
Congenital pulmonary acinar dysplasia Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect in Fallot's tetralogy Occurrence True Congenital Inferred relationship Some 4
Ventricular septal defect in Fallot's tetralogy Occurrence True Congenital Inferred relationship Some 2
A very rare congenital cranial dysinnervation disorder characterised by unilateral or bilateral non progressive congenital facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects. Occurrence True Congenital Inferred relationship Some 2
Congenital macrostomia of left side of mouth (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital macrostomia Occurrence True Congenital Inferred relationship Some 1
Pentalogy of Fallot Occurrence True Congenital Inferred relationship Some 5
Pentalogy of Fallot Occurrence True Congenital Inferred relationship Some 4
Dextraposition of aorta in Fallot's tetralogy Occurrence True Congenital Inferred relationship Some 1
Dextraposition of aorta in Fallot's tetralogy Occurrence True Congenital Inferred relationship Some 4
Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital macrostomia Occurrence True Congenital Inferred relationship Some 1
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Occurrence True Congenital Inferred relationship Some 1
A very rare congenital cranial dysinnervation disorder characterised by unilateral or bilateral non progressive congenital facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects. Occurrence True Congenital Inferred relationship Some 3
Congenital occlusion of anus Occurrence False Congenital Inferred relationship Some 2
Congenital occlusion of anus with fistula Occurrence True Congenital Inferred relationship Some 1
Congenital cyst of adrenal gland Occurrence True Congenital Inferred relationship Some 1
Otopalatodigital syndrome Occurrence False Congenital Inferred relationship Some 5
Otopalatodigital syndrome Occurrence False Congenital Inferred relationship Some 4
Otopalatodigital syndrome Occurrence False Congenital Inferred relationship Some 2
Otopalatodigital syndrome Occurrence False Congenital Inferred relationship Some 3
Otopalatodigital syndrome Occurrence False Congenital Inferred relationship Some 1
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Occurrence True Congenital Inferred relationship Some 1
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Occurrence True Congenital Inferred relationship Some 2
Congenital cyst of urinary bladder Occurrence True Congenital Inferred relationship Some 1
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Occurrence True Congenital Inferred relationship Some 2
Congenital arteriovenous fistula occlusion Occurrence True Congenital Inferred relationship Some 1
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Occurrence True Congenital Inferred relationship Some 3
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Occurrence True Congenital Inferred relationship Some 1
Paratubal cyst arising in mesonephric duct Occurrence True Congenital Inferred relationship Some 1
Embryonic fimbrial cyst Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of broad ligament Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of fallopian tube and broad ligament Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of right hemidiaphragm (disorder) Occurrence True Congenital Inferred relationship Some 1
Oculocutaneous melanocytic naevus Occurrence True Congenital Inferred relationship Some 1
Congenital absence of left testis (disorder) Occurrence True Congenital Inferred relationship Some 1
Nevus spilus (disorder) Occurrence False Congenital Inferred relationship Some 1
Malignant melanoma arising in congenital nevus Occurrence False Congenital Inferred relationship Some 1
Congenital absence of right testis Occurrence True Congenital Inferred relationship Some 1
Nevus of Ito Occurrence True Congenital Inferred relationship Some 1
Mongolian spot Occurrence True Congenital Inferred relationship Some 1
Congenital absence of left hemidiaphragm (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital giant pigmented nevus of skin Occurrence False Congenital Inferred relationship Some 1
Acral Darier's disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Palmar pitting due to Darier disease Occurrence True Congenital Inferred relationship Some 1
Estren-Dameshek anemia Occurrence True Congenital Inferred relationship Some 4
Hereditary benign acanthosis nigricans Occurrence True Congenital Inferred relationship Some 2
Hereditary benign acanthosis nigricans Occurrence True Congenital Inferred relationship Some 1
Hereditary benign acanthosis nigricans Occurrence False Congenital Inferred relationship Some 3
Embryonic cyst of cervix (disorder) Occurrence True Congenital Inferred relationship Some 1
Hereditary benign acanthosis nigricans with insulin resistance Occurrence False Congenital Inferred relationship Some 3
Hereditary benign acanthosis nigricans with insulin resistance Occurrence True Congenital Inferred relationship Some 1
Hereditary benign acanthosis nigricans with insulin resistance Occurrence True Congenital Inferred relationship Some 2
Constitutional aplastic anemia Occurrence True Congenital Inferred relationship Some 3
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 4
Epidermoid cyst of spleen Occurrence True Congenital Inferred relationship Some 1
Hereditary acantholytic dermatosis Occurrence True Congenital Inferred relationship Some 1
Darier disease Occurrence True Congenital Inferred relationship Some 1
Darier disease Occurrence False Congenital Inferred relationship Some 2
Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism Occurrence True Congenital Inferred relationship Some 3
Nail dystrophy due to Darier's disease (disorder) Occurrence False Congenital Inferred relationship Some 1
Acrokeratosis verruciformis of Darier disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Flexural Darier's disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypertrophic Darier's disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Linear/nevoid/zosteriform Darier's disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Acral Darier's disease (disorder) Occurrence False Congenital Inferred relationship Some 2
Double aortic arch with left arch dominant and atresia of right arch (disorder) Occurrence True Congenital Inferred relationship Some 1
Palmar pitting due to Darier disease Occurrence False Congenital Inferred relationship Some 2
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. Occurrence True Congenital Inferred relationship Some 1
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. Occurrence False Congenital Inferred relationship Some 3
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. Occurrence True Congenital Inferred relationship Some 2
Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital hypoplastic anemia Occurrence True Congenital Inferred relationship Some 1
Constitutional aplastic anemia with malformation Occurrence True Congenital Inferred relationship Some 3
Congenital talipes equinus Occurrence True Congenital Inferred relationship Some 1
Double aortic arch with dominant left arch and hypoplasia of right arch Occurrence True Congenital Inferred relationship Some 1
Double aortic arch with dominant left arch and hypoplasia of right arch Occurrence True Congenital Inferred relationship Some 2
Double aortic arch with dominant right arch and hypoplasia of left arch (disorder) Occurrence True Congenital Inferred relationship Some 2
Double aortic arch with dominant right arch and hypoplasia of left arch (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital instability of right hip joint Occurrence False Congenital Inferred relationship Some 1
Congenital instability of right hip joint Occurrence True Congenital Inferred relationship Some 2
Double aortic arch with right arch dominant and atresia of left arch (disorder) Occurrence True Congenital Inferred relationship Some 1
Acrokeratosis verruciformis of Darier disease (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital instability of left hip joint Occurrence True Congenital Inferred relationship Some 2
Congenital instability of left hip joint Occurrence False Congenital Inferred relationship Some 1
Flexural Darier's disease (disorder) Occurrence False Congenital Inferred relationship Some 2
Hypertrophic Darier's disease (disorder) Occurrence False Congenital Inferred relationship Some 2
Linear/nevoid/zosteriform Darier's disease (disorder) Occurrence False Congenital Inferred relationship Some 2

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