FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

90141005: Congenital hypertrophy (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    149420016 Congenital hypertrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    149424013 Congenital overgrowth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    149426010 Congenital thickening en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    833184019 Congenital hypertrophy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital hypertrophy Is a Congenital anomaly false Inferred relationship Some
    Congenital hypertrophy Is a Congenital growth alteration false Inferred relationship Some
    Congenital hypertrophy Is a Hypertrophy false Inferred relationship Some
    Congenital hypertrophy Is a Congenital enlargement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Total intestinal aganglionosis Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital enlargement of coronary sinus Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Macrodactyly of toes - fatty nerve tumor Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of sphenoid bone Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Macrogyria Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of nasal cavity Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Fallot's triad Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Congenital hypertrophy of pulmonary valve Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of cardiac ventricle Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital tracheobronchomegaly Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Tsuge operation on finger for macrodactyly repair Direct morphology False Congenital hypertrophy Inferred relationship Some 1
    Macrodactyly of toe (disorder) Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of testis Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Unilateral congenital macrostomia Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of tricuspid valve Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Giant esophagus Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital onychauxis Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital macrostomia Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Giant kidney Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital splenomegaly Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of aortic valve Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Megaloappendix Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of adrenal gland Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of lung Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital syphilitic splenomegaly Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Macrogenia Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital thickening of ulna Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Macrotia Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital enlargement of nasopharynx Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Familial megalencephaly Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Bannayan syndrome Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Repair of macrodactyly Direct morphology False Congenital hypertrophy Inferred relationship Some 1
    Bilateral congenital macrostomia Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Macroencephaly Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Sporadic megalencephaly Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital macrognathism Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Macrodactyly of toes - simple Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of ovary Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of pylorus Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Macrophthalmos Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Hirschsprung's disease NOS Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital aganglionic megacolon Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Repair of macrodactyly of finger Direct morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of mitral valve Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Fetal macrocephaly (disorder) Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of fallopian tube (disorder) Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of fallopian tube (disorder) Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Aganglionosis of Auerbach's plexus Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Fetal macrocephaly (disorder) Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Hemimegalencephaly Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Fallot's trilogy Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Hemimegalencephaly Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Fallot's trilogy Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Congenital hypertrophy of adrenal gland Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Fallot's trilogy Associated morphology False Congenital hypertrophy Inferred relationship Some 4
    Congenital hypertrophy of ovary Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Congenital hypertrophy of cardiac ventricle Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Myostatin related hypertrophy of muscle Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Congenital hypertrophy of pulmonary valve Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Congenital hypertrophy of lung Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Congenital hypertrophy of fallopian tube (disorder) Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Congenital hypertrophy of aortic valve Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Congenital hypertrophy of cardiac ventricle Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of pylorus Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Congenital hypertrophy of retinal pigment epithelium Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Congenital hypertrophy of adrenal gland Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of nasal cavity Associated morphology False Congenital hypertrophy Inferred relationship Some 3
    Congenital hypertrophy of mitral valve Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Congenital hypertrophy of ovary Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital hypertrophy of testis Associated morphology False Congenital hypertrophy Inferred relationship Some 3
    Congenital hypertrophy of ureteric valve Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Congenital hypertrophy of tricuspid valve Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Congenital hypertrophy of sphenoid bone Associated morphology False Congenital hypertrophy Inferred relationship Some 3
    Giant esophagus Associated morphology False Congenital hypertrophy Inferred relationship Some 3
    Mowat-Wilson syndrome (disorder) Associated morphology False Congenital hypertrophy Inferred relationship Some 4
    Long segment Hirschsprung's disease Associated morphology False Congenital hypertrophy Inferred relationship Some 4
    Short segment Hirschsprung's disease Associated morphology False Congenital hypertrophy Inferred relationship Some 4
    Congenital aganglionic megacolon Associated morphology False Congenital hypertrophy Inferred relationship Some 4
    Total intestinal aganglionosis Associated morphology False Congenital hypertrophy Inferred relationship Some 4
    Mowat-Wilson syndrome (disorder) Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Aganglionosis of Auerbach's plexus Associated morphology False Congenital hypertrophy Inferred relationship Some 5
    Congenital overgrowth of partial lower limb Associated morphology False Congenital hypertrophy Inferred relationship Some 3
    Congenital overgrowth of foot Associated morphology False Congenital hypertrophy Inferred relationship Some 3
    Congenital overgrowth of whole lower limb Associated morphology False Congenital hypertrophy Inferred relationship Some 3
    Congenital overgrowth of lower limb Associated morphology False Congenital hypertrophy Inferred relationship Some 3
    Congenital overgrowth of proximal lower limb Associated morphology False Congenital hypertrophy Inferred relationship Some 3
    Congenital overgrowth of distal lower limb Associated morphology False Congenital hypertrophy Inferred relationship Some 3
    Congenital macrocheilia Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Congenital macrodactyly (disorder) Associated morphology False Congenital hypertrophy Inferred relationship Some 2
    Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Associated morphology False Congenital hypertrophy Inferred relationship Some 7
    Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. Associated morphology False Congenital hypertrophy Inferred relationship Some 6
    Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. Associated morphology False Congenital hypertrophy Inferred relationship Some 7
    Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Associated morphology False Congenital hypertrophy Inferred relationship Some 10
    Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. Associated morphology False Congenital hypertrophy Inferred relationship Some 9
    A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Associated morphology False Congenital hypertrophy Inferred relationship Some 10
    Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. Associated morphology False Congenital hypertrophy Inferred relationship Some 9
    Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Associated morphology False Congenital hypertrophy Inferred relationship Some 1
    Aganglionosis of Auerbach's plexus Associated morphology False Congenital hypertrophy Inferred relationship Some 3
    Mowat-Wilson syndrome (disorder) Associated morphology False Congenital hypertrophy Inferred relationship Some 3
    Hirschsprung disease of rectosigmoid region (disorder) Associated morphology False Congenital hypertrophy Inferred relationship Some 6
    Extensive aganglionosis Hirschsprung disease (disorder) Associated morphology False Congenital hypertrophy Inferred relationship Some 4

    Start Page 2 of 3

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

    Back to Start