FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.3  |  FHIR Version n/a  User: [n/a]

66933007: Chromosome pair 14 (cell structure)


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
111173016 Chromosome pair 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1204229013 Chromosome pair 14 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1816311000005113 Kromosompar 14 da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome pair 14 Is a Chromosome true Inferred relationship Some
Chromosome pair 14 del af Nucleus false Additional relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. Finding site False Chromosome pair 14 Inferred relationship Some 1
Komplet trisomi 14-syndrom Finding site False Chromosome pair 14 Inferred relationship Some 1
Anomaly of chromosome pair 14 Finding site False Chromosome pair 14 Inferred relationship Some 1
14q partial trisomy (disorder) Finding site False Chromosome pair 14 Inferred relationship Some 1
14q partial proximal trisomy syndrome Finding site False Chromosome pair 14 Inferred relationship Some 1
Komplet trisomi 14-syndrom Finding site False Chromosome pair 14 Inferred relationship Some 1
14q partial trisomy (disorder) Finding site False Chromosome pair 14 Inferred relationship Some 1
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. Finding site False Chromosome pair 14 Inferred relationship Some 1
14q partial proximal trisomy syndrome Finding site False Chromosome pair 14 Inferred relationship Some 1
Anomaly of chromosome pair 14 Finding site False Chromosome pair 14 Inferred relationship Some 1
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. Finding site False Chromosome pair 14 Inferred relationship Some 1
Komplet trisomi 14-syndrom Finding site False Chromosome pair 14 Inferred relationship Some 1
Anomaly of chromosome pair 14 Finding site True Chromosome pair 14 Inferred relationship Some 1
14q partial proximal trisomy syndrome Finding site False Chromosome pair 14 Inferred relationship Some 1
14q partial trisomy (disorder) Finding site True Chromosome pair 14 Inferred relationship Some 1
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. Finding site False Chromosome pair 14 Inferred relationship Some 4
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. Finding site False Chromosome pair 14 Inferred relationship Some 3
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. Finding site True Chromosome pair 14 Inferred relationship Some 2
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. Finding site False Chromosome pair 14 Inferred relationship Some 3
Deletion of part of chromosome 14 (disorder) Finding site True Chromosome pair 14 Inferred relationship Some 1
Partial trisomy of chromosome 14 (disorder) Finding site True Chromosome pair 14 Inferred relationship Some 1
Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate. Finding site True Chromosome pair 14 Inferred relationship Some 2
Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate. Finding site True Chromosome pair 14 Inferred relationship Some 1
Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and ophthalmological anomalies were also reported. Finding site True Chromosome pair 14 Inferred relationship Some 1
A rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. Finding site False Chromosome pair 14 Inferred relationship Some 1
A rare partial deletion of the long arm of chromosome 14 with characteristics of ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations and hearing impairment. Smaller 14q22 deletions may have variable expression. Finding site False Chromosome pair 14 Inferred relationship Some 4
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. Finding site True Chromosome pair 14 Inferred relationship Some 2
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. Finding site False Chromosome pair 14 Inferred relationship Some 1
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. Finding site True Chromosome pair 14 Inferred relationship Some 3
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. Finding site False Chromosome pair 14 Inferred relationship Some 1
14q32 deletion syndrome Finding site True Chromosome pair 14 Inferred relationship Some 1
14q32 deletion syndrome Finding site False Chromosome pair 14 Inferred relationship Some 2
Distal deletion of chromosome 14 (disorder) Finding site True Chromosome pair 14 Inferred relationship Some 1
Distal duplication of chromosome 14 (disorder) Finding site True Chromosome pair 14 Inferred relationship Some 1
Paternal 14q32.2 microdeletion (disorder) Finding site True Chromosome pair 14 Inferred relationship Some 1
Medial duplication of chromosome 14 (disorder) Finding site True Chromosome pair 14 Inferred relationship Some 1
Maternal uniparental disomy of chromosome 14 Finding site True Chromosome pair 14 Inferred relationship Some 1
Medial deletion of chromosome 14 Finding site True Chromosome pair 14 Inferred relationship Some 1
Paternal uniparental disomy of chromosome 14 Finding site True Chromosome pair 14 Inferred relationship Some 1
Proximal deletion of chromosome 14 Finding site True Chromosome pair 14 Inferred relationship Some 1
Proximal duplication of chromosome 14 (disorder) Finding site True Chromosome pair 14 Inferred relationship Some 1
Disease with characteristics of intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck and large low set ears. Finding site True Chromosome pair 14 Inferred relationship Some 1
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. Finding site True Chromosome pair 14 Inferred relationship Some 2
A rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. Finding site True Chromosome pair 14 Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Finding site True Chromosome pair 14 Inferred relationship Some 2
A rare partial deletion of the long arm of chromosome 14 with characteristics of ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations and hearing impairment. Smaller 14q22 deletions may have variable expression. Finding site True Chromosome pair 14 Inferred relationship Some 2
14q partial proximal trisomy syndrome Finding site True Chromosome pair 14 Inferred relationship Some 2
14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. Finding site True Chromosome pair 14 Inferred relationship Some 2

This concept is not in any reference sets

Back to Start